methylmalonic acid has been researched along with Amino Acid Metabolism Disorders, Inborn in 378 studies
Methylmalonic Acid: A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
methylmalonic acid : A dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment." | 9.41 | Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial. ( Ababneh, F; Ahmed, H; Al Mutairi, F; Al Othaim, A; Alasmari, A; Albdah, B; Alfadhel, M; Alfares, A; Aljeraisy, M; Almannai, M; Alohali, L; Alswaid, A; Elamin, M; Eyaid, W; Faqeih, E; Hussein, MA; Nashabat, M; Rahbeeni, Z; Saleh, M; Umair, M, 2021) |
| "Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is stated to be the most common inherited disorder of cobalamin metabolism." | 8.88 | Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. ( Carrillo-Carrasco, N; Chandler, RJ; Venditti, CP, 2012) |
| " CblC deficiency, an inborn error of cobalamin processing, is a rare cause of atypical hemolytic-uremic syndrome (aHUS) and results in hyperhomocysteinemia and methylmalonic aciduria." | 8.12 | The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency. ( Elmaghrabi, A; Gotway, G; Wolf, MTF; Wood, WD, 2022) |
| "Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism, and different approaches have been applied to its prenatal diagnosis." | 8.02 | Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type. ( Chen, T; Gong, Z; Gu, X; Han, L; Liang, L; Qiu, W; Wang, L; Xiao, B; Xu, F; Ye, J; Zhang, H; Zhu, H, 2021) |
| "Evidence for effectiveness of newborn screening (NBS) for propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is scarce." | 7.96 | Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening? ( Bosch, AM; Brouwers, MCGJ; de Vries, MC; Haijes, HA; Jans, JJM; Janssen, MC; Langendonk, JG; Langeveld, M; Molema, F; Mulder, MF; Rubio-Gozalbo, ME; van der Ploeg, AT; van Hasselt, PM; van Spronsen, F; Verhoeven-Duif, NM; Wagenmakers, MA; Williams, M, 2020) |
| "Propionic acidemia (PA) and methylmalonic acidemia (MMA) are autosomal recessive disorders of propionyl-CoA (P-CoA) catabolism, which are caused by a deficiency in the enzyme propionyl-CoA carboxylase or the enzyme methylmalonyl-CoA (MM-CoA) mutase, respectively." | 7.96 | Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. ( Armstrong, AJ; Chapman, KA; Collado, MS; Day, N; Figler, RA; Hoang, SA; Olson, M; Reardon, J; Summar, M; Wamhoff, BR, 2020) |
| "Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL)." | 7.85 | Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. ( Baráth, Á; Baumgartner, MR; Fingerhut, R; Gramer, G; Hoffmann, GF; Klinke, G; Kölker, S; Monostori, P; Okun, JG; Richter, S, 2017) |
| "Patients with combined methylmalonic acidemia and homocystinuria respond to a combined treatment consisting of supplementation of hydroxycobalamin, betaine, folic acid, vitamin B6 and L-carnitine with clinical and biochemical improvement." | 7.79 | [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment]. ( Gao, XL; Gu, XF; Han, LS; Huang, Z; Ji, WJ; Li, XY; Qiu, WJ; Wang, Y; Ye, J; Zhang, HW, 2013) |
| "In propionic aciduria and methylmalonic aciduria, hyperammonemia as a symptom of metabolic decompensation is one of the major clinical problems." | 7.76 | N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. ( Donati, MA; Filippi, L; Fiorini, P; Gozzini, E; la Marca, G; Malvagia, S, 2010) |
| "In this work, we review the clinical and genetic data in 14 Latin American propionic acidemia (PA) and 15 methylmalonic aciduria (MMAuria) patients." | 7.76 | The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. ( Angaroni, C; Cornejo, V; de Kremer, RD; Desviat, LR; Merinero, B; Pérez, B; Pérez-Cerdá, C; Rodríguez-Pombo, P; Sánchez-Alcudia, R; Specola, N; Ugarte, M; Wajner, M, 2010) |
| "An increased reactive oxygen species (ROS) production and apoptosis rate have been associated with several disorders involved in cobalamin metabolism, including isolated methylmalonic aciduria (MMA) cblB type and MMA combined with homocystinuria (MMAHC) cblC type." | 7.76 | Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type. ( Gámez, A; Jorge-Finnigan, A; Pérez, B; Richard, E; Ugarte, M, 2010) |
| "Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most frequent inborn error of vitamin B(12)." | 7.74 | Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. ( Aiello, C; Barbot, C; Boenzi, S; Caruso, U; Cerone, R; Danhaive, O; Deodato, F; Diogo, L; Dionisi-Vici, C; Kok, F; Leão, E; Locatelli, M; Martins, E; Moroni, I; Nogueira, C; Rizzo, C; Santorelli, FM; Schiaffino, MC; Sequeira, S; Uziel, G; Vilarinho, L, 2008) |
| "Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of carbamyl phosphate synthetase 1." | 7.74 | Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia? ( Acquaviva, C; Forest, I; Fouilhoux, A; Guffon, N; Levrat, V; Vianey-Saban, C, 2008) |
| " Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups." | 7.73 | Creatine metabolism in combined methylmalonic aciduria and homocystinuria. ( Beaudet, AL; Bodamer, OA; Bottiglieri, T; O'Brien, WE; Sahoo, T; Scaglia, F; Stöckler-Ipsiroglu, S; Wagner, C, 2005) |
| "Methylmalonic acidemia with associated homocystinuria is a rare inborn error of amino acid metabolism affecting energy supply on the cellular level." | 7.71 | Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria. ( Baden, W; Bosk, A; Heinemann, MK; Tomaske, M; Trefz, FK; Ziemer, G, 2001) |
| "Prenatal diagnosis for combined methylmalonic aciduria and homocystinuria was performed in five at-risk pregnancies by determination of methylmalonic acid (MMA) and total homocysteine (Hcy) in amniotic fluid supernatant." | 7.70 | Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria. ( Chadefaux-Vekemans, B; Garcia, MJ; Jakobs, C; Kamoun, P; Merinero, B; Pérez-Cerdá, C; Tonetti, C; Ugarte, M; Zittoun, J, 1998) |
| "A 6-month-old boy with methylmalonic acidemia died of ecthyma gangrenosum caused by systemic Pseudomonas aeruginosa infection." | 7.69 | A case of fulminant ecthyma gangrenosum associated with Pseudomonas aeruginosa infection in a patient with methylmalonic acidemia. ( Ishikawa, N; Kishiyama, K; Kubo, S; Okano, M; Satake, N, 1994) |
| "We report two patients with methylmalonic acidemia (MMA) in whom renal biopsy demonstrated interstitial nephritis, bringing the total of such reported cases to four." | 7.68 | Tubulointerstitial nephritis in methylmalonic acidemia. ( Geraghty, M; Kohout, E; Mroczek, E; Rosenblatt, D; Rutledge, SL, 1993) |
| "The biochemical and growth responses to dietary branched-chain amino acid (BCAA) intake were studied in two children; one with a disorder of branched-chain amino acid metabolism, maple syrup urine disease (MSUD) (McKusick 24860), and another with methylmalonic aciduria (MMA) (McKusick 25100)." | 7.68 | Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria. ( Carter, RJ; Parsons, HG; Snyder, FF; Unrath, M, 1990) |
| "A 33-month-old boy with an inborn error of vitamin B12 metabolism characterized by methylmalonic aciduria, homocystinuria, cystathioninuria , and hypomethioninemia had poor vision and a progressive retinal pigmentary degeneration." | 7.67 | Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities. ( Dowton, SB; Fulton, AB; Levy, HL; Robb, RM, 1984) |
| "We have identified a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the cb1C type mutant." | 7.67 | A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia. ( Isenberg, JN; Mamlok, RJ; Norcross, K; Rassin, DK; Tallan, HH, 1986) |
| "The use of hydroxocobalamin (OH-B12), betaine, carnitine, and folinic acid were studied in two children with the cobalamin C form of methylmalonic acidemia and homocystinuria." | 7.67 | Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. ( Allen, RH; Bartholomew, DW; Batshaw, ML; Francomano, CA; Roe, CR; Rosenblatt, D; Valle, DL, 1988) |
| "We describe two patients with methylmalonic aciduria and homocystinuria (Cbl C)." | 7.67 | Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria. ( Dallaire, L; Geoffroy, G; Homsy, MB; Melançon, SB; Mitchell, GA; Orquin, J; Rosenblatt, DS; Watkins, D, 1986) |
| "We describe a case of neonatal methylmalonic acidemia with the unusual complication of severe, insulin-resistant hyperglycemia." | 7.66 | Methylmalonic acidemia with the unusual complication of severe hyperglycemia. ( Boeckx, RL; Hicks, JM, 1982) |
| " He was found to have methylmalonic aciduria (79 mumol per milligram of creatinine) and homocystinuria (0." | 7.66 | A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. ( Higginbottom, MC; Nyhan, WL; Sweetman, L, 1978) |
| "Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance." | 5.62 | Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria. ( Kowalik, A; MacDonald, A; Sykut-Cegielska, J, 2021) |
| "Methylmalonic Acidurias (MMAs) are a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methylmalonyl-CoA mutase, methylmalonyl-CoA epimerase, and cobalamin metabolism." | 5.56 | A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy. ( Brindisino, P; Cicalini, I; Consalvo, A; De Laurenzi, V; Dionisi-Vici, C; Gasparroni, G; Gazzolo, D; Pieragostino, D; Rizzo, C; Rossi, C; Semeraro, D; Valentinuzzi, S; Zucchelli, M, 2020) |
| "Proteinuria were a primary presenting symptom, followed by anemia and neurologic symptoms (frequent convulsions and unstable walking, respectively)." | 5.56 | Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report. ( Chen, LQ; Chen, RY; Chen, XQ; Li, XZ; Lin, Q; Shen, YY; Wu, HY; Xu, QY; Zhu, XM; Zhu, Y, 2020) |
| "Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment." | 5.41 | Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial. ( Ababneh, F; Ahmed, H; Al Mutairi, F; Al Othaim, A; Alasmari, A; Albdah, B; Alfadhel, M; Alfares, A; Aljeraisy, M; Almannai, M; Alohali, L; Alswaid, A; Elamin, M; Eyaid, W; Faqeih, E; Hussein, MA; Nashabat, M; Rahbeeni, Z; Saleh, M; Umair, M, 2021) |
| "Presently pregnancy is no more exceptional in women with metabolic diseases." | 5.39 | Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report. ( Bellelli, E; Carducci, C; Elli, M; Gentile, I; Labriola, D; Lubrano, R; Paoli, S; Pérez, B; Santagata, S; Ugarte, M, 2013) |
| "Inherited disorders of cobalamin (cbl) metabolism (cblA-J) result in accumulation of methylmalonic acid (MMA) and/or homocystinuria (HCU)." | 5.22 | Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review. ( Coelho, D; Conart, JB; Dionisi-Vici, C; Guéant, JL; Guéant-Rodriguez, RM; Matmat, K; Oussalah, A; Wiedemann-Fodé, A, 2022) |
| "There is an unmet need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic acidemia (PA) and methylmalonic acidemia (MMA)." | 5.22 | Biomarkers for drug development in propionic and methylmalonic acidemias. ( Jurecka, A; Longo, N; Sass, JO; Vockley, J, 2022) |
| "Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is stated to be the most common inherited disorder of cobalamin metabolism." | 4.88 | Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. ( Carrillo-Carrasco, N; Chandler, RJ; Venditti, CP, 2012) |
| " Maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) represent the most commonly encountered abnormal organic acidurias." | 4.81 | Branched-chain organic acidurias. ( Ogier de Baulny, H; Saudubray, JM, 2002) |
| "An erosive, desquamating dermatitis with histopathologic characteristics resembling acrodermatitis enteropathica may be a presenting sign in cobalamin C methylmalonic acidemia, even in the absence of long-standing nutritional restrictions or deficiency." | 4.79 | Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations. ( Berrios, M; Crawford, D; Frieden, IJ; Goodman, SI; Hart, K; Howard, R; Levy, ML; McCalmont, T; Ohnstad, C; Packman, S; Rosenblatt, DS; Sweetman, L, 1997) |
| "Determination of methylmalonic acid (MMA) from dried blood spots (DBS) is commonly performed in clinical diagnostics and newborn screening for propionic acidemia (PA) and methylmalonic acidemia." | 4.31 | Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening. ( Galla, Z; Godejohann, M; Gramer, G; Hoffmann, GF; Janda, J; Klinke, G; Kohlmüller, D; Kölker, S; Monostori, P; Okun, JG; Rácz, G; Szatmári, I; Zsidegh, P, 2023) |
| " CblC deficiency, an inborn error of cobalamin processing, is a rare cause of atypical hemolytic-uremic syndrome (aHUS) and results in hyperhomocysteinemia and methylmalonic aciduria." | 4.12 | The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency. ( Elmaghrabi, A; Gotway, G; Wolf, MTF; Wood, WD, 2022) |
| "Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism, and different approaches have been applied to its prenatal diagnosis." | 4.02 | Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type. ( Chen, T; Gong, Z; Gu, X; Han, L; Liang, L; Qiu, W; Wang, L; Xiao, B; Xu, F; Ye, J; Zhang, H; Zhu, H, 2021) |
| "Cobalamin J disease (CblJ) is an ultra-rare autosomal recessive disorder of intracellular cobalamin metabolism associated with combined methylmalonic acidemia and homocystinuria." | 4.02 | Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course. ( Aggarwal, A; Berry, SA; Miller, D; Pierpont, EI; Pillai, NR, 2021) |
| "Combined methylmalonic aciduria with homocystinuria (cblC type) is a rare disease caused by mutations in the MMACHC gene." | 4.02 | Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice. ( Baumgartner, MR; Forny, M; Froese, DS; Grimm, C; Kiessling, E; Kožich, V; Krijt, J; Nötzli, S; Samardzija, M; Todorova, V, 2021) |
| "Evidence for effectiveness of newborn screening (NBS) for propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is scarce." | 3.96 | Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening? ( Bosch, AM; Brouwers, MCGJ; de Vries, MC; Haijes, HA; Jans, JJM; Janssen, MC; Langendonk, JG; Langeveld, M; Molema, F; Mulder, MF; Rubio-Gozalbo, ME; van der Ploeg, AT; van Hasselt, PM; van Spronsen, F; Verhoeven-Duif, NM; Wagenmakers, MA; Williams, M, 2020) |
| "Pathophysiology of life-threatening acute metabolic decompensations (AMD) in propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is insufficiently understood." | 3.96 | Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach. ( Haijes, HA; Jans, JJM; van der Ham, M; van Hasselt, PM; Verhoeven-Duif, NM, 2020) |
| "Propionic acidemia (PA) and methylmalonic acidemia (MMA) are autosomal recessive disorders of propionyl-CoA (P-CoA) catabolism, which are caused by a deficiency in the enzyme propionyl-CoA carboxylase or the enzyme methylmalonyl-CoA (MM-CoA) mutase, respectively." | 3.96 | Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. ( Armstrong, AJ; Chapman, KA; Collado, MS; Day, N; Figler, RA; Hoang, SA; Olson, M; Reardon, J; Summar, M; Wamhoff, BR, 2020) |
| " We prospectively evaluated plasma MCA and its relationship with disease biomarkers, clinical status, and disease burden in 22 patients, 13 with propionic acidemia (PA) and nine with methylmalonic acidemia (MMA) on standard treatment and/or after transplantation." | 3.96 | Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia. ( Boenzi, S; Candusso, M; Catesini, G; Dello Strologo, L; Dionisi-Vici, C; Liguori, A; Maines, E; Maiorana, A; Martinelli, D; Mosca, A; Olivieri, G; Piemonte, F; Rizzo, C; Spada, M; Taurisano, R, 2020) |
| "Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL)." | 3.85 | Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. ( Baráth, Á; Baumgartner, MR; Fingerhut, R; Gramer, G; Hoffmann, GF; Klinke, G; Kölker, S; Monostori, P; Okun, JG; Richter, S, 2017) |
| "Patients with combined methylmalonic acidemia and homocystinuria respond to a combined treatment consisting of supplementation of hydroxycobalamin, betaine, folic acid, vitamin B6 and L-carnitine with clinical and biochemical improvement." | 3.79 | [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment]. ( Gao, XL; Gu, XF; Han, LS; Huang, Z; Ji, WJ; Li, XY; Qiu, WJ; Wang, Y; Ye, J; Zhang, HW, 2013) |
| "In propionic aciduria and methylmalonic aciduria, hyperammonemia as a symptom of metabolic decompensation is one of the major clinical problems." | 3.76 | N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. ( Donati, MA; Filippi, L; Fiorini, P; Gozzini, E; la Marca, G; Malvagia, S, 2010) |
| "Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of cellular vitamin B12 metabolism." | 3.76 | Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder. ( Froese, DS; Gravel, RA; Healy, S; Kochan, G; McDonald, M; Niesen, FH; Oppermann, U, 2010) |
| "In this work, we review the clinical and genetic data in 14 Latin American propionic acidemia (PA) and 15 methylmalonic aciduria (MMAuria) patients." | 3.76 | The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. ( Angaroni, C; Cornejo, V; de Kremer, RD; Desviat, LR; Merinero, B; Pérez, B; Pérez-Cerdá, C; Rodríguez-Pombo, P; Sánchez-Alcudia, R; Specola, N; Ugarte, M; Wajner, M, 2010) |
| "An increased reactive oxygen species (ROS) production and apoptosis rate have been associated with several disorders involved in cobalamin metabolism, including isolated methylmalonic aciduria (MMA) cblB type and MMA combined with homocystinuria (MMAHC) cblC type." | 3.76 | Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type. ( Gámez, A; Jorge-Finnigan, A; Pérez, B; Richard, E; Ugarte, M, 2010) |
| "To describe 3 patients with the cblD disorder, a rare inborn error of cobalamin metabolism caused by mutations in the MMADHC gene that can result in isolated homocystinuria, isolated methylmalonic aciduria, or combined homocystinuria and methylmalonic aciduria." | 3.75 | Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. ( Bernstein, JA; Coelho, D; Cowan, T; Crombez, EA; Enns, GM; Fowler, B; Lee-Messer, C; Miousse, IR; Rosenblatt, DS; Rupar, T; Vilain, E; Watkins, D, 2009) |
| "Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most frequent inborn error of vitamin B(12)." | 3.74 | Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. ( Aiello, C; Barbot, C; Boenzi, S; Caruso, U; Cerone, R; Danhaive, O; Deodato, F; Diogo, L; Dionisi-Vici, C; Kok, F; Leão, E; Locatelli, M; Martins, E; Moroni, I; Nogueira, C; Rizzo, C; Santorelli, FM; Schiaffino, MC; Sequeira, S; Uziel, G; Vilarinho, L, 2008) |
| "Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of carbamyl phosphate synthetase 1." | 3.74 | Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia? ( Acquaviva, C; Forest, I; Fouilhoux, A; Guffon, N; Levrat, V; Vianey-Saban, C, 2008) |
| " Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups." | 3.73 | Creatine metabolism in combined methylmalonic aciduria and homocystinuria. ( Beaudet, AL; Bodamer, OA; Bottiglieri, T; O'Brien, WE; Sahoo, T; Scaglia, F; Stöckler-Ipsiroglu, S; Wagner, C, 2005) |
| "Methylmalonic acidemia with associated homocystinuria is a rare inborn error of amino acid metabolism affecting energy supply on the cellular level." | 3.71 | Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria. ( Baden, W; Bosk, A; Heinemann, MK; Tomaske, M; Trefz, FK; Ziemer, G, 2001) |
| "Prenatal diagnosis for combined methylmalonic aciduria and homocystinuria was performed in five at-risk pregnancies by determination of methylmalonic acid (MMA) and total homocysteine (Hcy) in amniotic fluid supernatant." | 3.70 | Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria. ( Chadefaux-Vekemans, B; Garcia, MJ; Jakobs, C; Kamoun, P; Merinero, B; Pérez-Cerdá, C; Tonetti, C; Ugarte, M; Zittoun, J, 1998) |
| "Cutaneous lesions resembling acrodermatitis enteropathica were present in two infants with methylmalonic acidemia and in one infant with propionic acidemia." | 3.69 | Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria. ( De Meirleir, L; De Raeve, L; Gerlo, E; Ramet, J; Vandenplas, Y, 1994) |
| "A 6-month-old boy with methylmalonic acidemia died of ecthyma gangrenosum caused by systemic Pseudomonas aeruginosa infection." | 3.69 | A case of fulminant ecthyma gangrenosum associated with Pseudomonas aeruginosa infection in a patient with methylmalonic acidemia. ( Ishikawa, N; Kishiyama, K; Kubo, S; Okano, M; Satake, N, 1994) |
| " Five had methylmalonic acidemia, three had isovaleric acidemia, and one had maple syrup urine disease." | 3.69 | Pancreatitis in patients with organic acidemias. ( Bonham, J; Clarke, JT; Durie, P; Kahler, SG; Lawless, ST; Leonard, JV; Sherwood, WG; Taylor, CJ; Woolf, D; Zaritsky, A, 1994) |
| " We report here on a case of anemia associated with erythroblastopenia-that is less frequent in this context-in a neonate with methylmalonic aciduria." | 3.69 | Erythroblastopenia associated with methylmalonic aciduria. Case report and in vitro studies. ( Blum, D; Clercx, A; Corazza, F; Fondu, P; Mardens, Y, 1996) |
| "We report two patients with methylmalonic acidemia (MMA) in whom renal biopsy demonstrated interstitial nephritis, bringing the total of such reported cases to four." | 3.68 | Tubulointerstitial nephritis in methylmalonic acidemia. ( Geraghty, M; Kohout, E; Mroczek, E; Rosenblatt, D; Rutledge, SL, 1993) |
| "Reexamination of serum from a child thought to have died of ethylene glycol poisoning showed that the child had methylmalonic acidemia." | 3.68 | Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia. ( Hoffmann, JW; Lynch, RE; Shoemaker, JD; Sly, WS, 1992) |
| "The biochemical and growth responses to dietary branched-chain amino acid (BCAA) intake were studied in two children; one with a disorder of branched-chain amino acid metabolism, maple syrup urine disease (MSUD) (McKusick 24860), and another with methylmalonic aciduria (MMA) (McKusick 25100)." | 3.68 | Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria. ( Carter, RJ; Parsons, HG; Snyder, FF; Unrath, M, 1990) |
| "Therapeutic guidelines have been obtained from a retrospective review of 41 patients affected with organic acidaemias, 16 patients with neonatal maple syrup urine disease (MSUD), 11 methylmalonic acidaemia, (MMA) seven propionic acidaemias (PA) and seven isovaleric acidaemias (IVA), and by comparing this personal series with similar reported cases." | 3.67 | Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update. ( Charpentier, C; Coudé, FX; Depondt, E; Frézal, J; Mitchell, G; Munnich, A; Ogier, H; Rey, F; Rey, J; Saudubray, JM, 1984) |
| "A 33-month-old boy with an inborn error of vitamin B12 metabolism characterized by methylmalonic aciduria, homocystinuria, cystathioninuria , and hypomethioninemia had poor vision and a progressive retinal pigmentary degeneration." | 3.67 | Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities. ( Dowton, SB; Fulton, AB; Levy, HL; Robb, RM, 1984) |
| "We have identified a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the cb1C type mutant." | 3.67 | A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia. ( Isenberg, JN; Mamlok, RJ; Norcross, K; Rassin, DK; Tallan, HH, 1986) |
| "The use of hydroxocobalamin (OH-B12), betaine, carnitine, and folinic acid were studied in two children with the cobalamin C form of methylmalonic acidemia and homocystinuria." | 3.67 | Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. ( Allen, RH; Bartholomew, DW; Batshaw, ML; Francomano, CA; Roe, CR; Rosenblatt, D; Valle, DL, 1988) |
| "We describe two patients with methylmalonic aciduria and homocystinuria (Cbl C)." | 3.67 | Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria. ( Dallaire, L; Geoffroy, G; Homsy, MB; Melançon, SB; Mitchell, GA; Orquin, J; Rosenblatt, DS; Watkins, D, 1986) |
| " The spectra and retention times of abnormal peaks found on chromatography of urine from patients with methylmalonic aciduria, maple syrup urine disease, and lactic aciduria were recorded and compared with those obtained for group of pure organic acids." | 3.67 | Use of a diode array detector in investigation of neonatal organic aciduria. ( Allen, KR; Khan, R; Watson, D, 1985) |
| "A 1-year-old boy with a typical B12-responsive form of methylmalonic acidaemia was hospitalized twice due to acute bacterial infections." | 3.66 | Excretion pattern of branched-chain amino acid metabolites during the course of acute infections in a patient with methylmalonic acidaemia. ( Christensen, E; Gregersen, N; Kølvraa, S; Rasmussen, K, 1980) |
| "We describe a case of neonatal methylmalonic acidemia with the unusual complication of severe, insulin-resistant hyperglycemia." | 3.66 | Methylmalonic acidemia with the unusual complication of severe hyperglycemia. ( Boeckx, RL; Hicks, JM, 1982) |
| " The patients suffered from distinct variants of maple syrup urine disease, propionic acidaemia, methylmalonic acidaemia, lactic acidosis and hyperglycinuria." | 3.66 | [Human fibroblast bank for studying amino acid disorders and organic acidemias]. ( del Valle, JA; Merinero, B; Pérez-Cerdá, C; Ugarte, M, 1982) |
| "A patient presenting with severe metabolic acidosis accompanied by hyperglycinemia, hyperuricemia, hypoglycemia and hypertammonemia is described." | 3.66 | Methylmalonic acidemia. ( Akaboshi, I; Hattori, S; Matsuda, I; Nagata, N; Oka, Y; Shinozuka, S; Terashima, T; Yamamoto, J, 1978) |
| " He was found to have methylmalonic aciduria (79 mumol per milligram of creatinine) and homocystinuria (0." | 3.66 | A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. ( Higginbottom, MC; Nyhan, WL; Sweetman, L, 1978) |
| "Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbations and multiorgan pathology." | 3.01 | New insights into the pathophysiology of methylmalonic acidemia. ( Head, PE; Meier, JL; Venditti, CP, 2023) |
| "Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor, 5'-deoxy-adenosylcobalamin." | 3.01 | Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia. ( Catesini, G; Dionisi-Vici, C; Ferry, S; Gagné, J; Gebremariam, A; Hall, C; Manoli, I; Martinelli, D; McCoy, S; Pass, AR; Rizzo, C; Sacchetti, E; Sloan, JL; Spada, M; Van Ryzin, C; Venditti, CP, 2023) |
| "Clinical trial development in rare diseases poses significant study design and methodology challenges, such as disease heterogeneity and appropriate patient selection, identification and selection of key endpoints, decisions on study duration, choice of control groups, selection of appropriate statistical analyses, and patient recruitment." | 3.01 | Challenges and strategies for clinical trials in propionic and methylmalonic acidemias. ( Burton, B; Ganju, J; Jurecka, A; Leiro, B; Longo, N; Vockley, J; Zori, R, 2023) |
| "Methylmalonic aciduria (MMA) is a common one of the congenital disorders of organic acids metabolism." | 2.73 | [Clinical studies on fifty-seven Chinese patients with combined methylmalonic aciduria and homocysteinemia]. ( Dong, JH; Jiang, YW; Liu, P; Qin, J; Song, JQ; Wang, LF; Wu, XR; Yan, R; Yang, YL; Zhang, Y; Zhang, YH, 2007) |
| "When hypoglycemia was found, the mental status of 55% of patients with MSUD and MMA and 20% of patients with PA, was alert." | 2.67 | Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD). ( al Gain, SI; el Din, A; Henriquez, H; Ozand, PT; Subramanyam, SB, 1994) |
| "Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders." | 2.55 | Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review. ( Chen, M; Wang, D; Yang, J; Yang, Q; Zhuang, J, 2017) |
| "Methylmalonic acidurias are a heterogeneous group of inborn errors of branched-chain amino acid metabolism." | 2.49 | Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist. ( Hörster, F; Morath, MA; Sauer, SW, 2013) |
| "Methylmalonic acidemia (MMA) is an autosomal-recessive inborn error of metabolism." | 2.44 | Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature. ( Ghanaati, H; Molaei, S; Radmanesh, A; Robertson, RL; Zaman, T; Zamani, AA, 2008) |
| "She was eventually diagnosed with subacute combined degeneration because of CblC deficiency and effectively treated." | 1.91 | Pearls & Oy-sters: Late-Onset Cobalamin C Deficiency Presenting With Subacute Combined Degeneration. ( Goyne, C; Kansal, L, 2023) |
| " She was maintained on 2 mg/kg/day dosing of hydroxocobalamin." | 1.72 | Clinical and biochemical outcomes in cobalamin C deficiency with use of high-dose hydroxocobalamin in the early neonatal period. ( Farach, L; Frigeni, M; Gunther, K; Kacpura, A, 2022) |
| "Intellectual disability was equally distributed among the initial treatment groups, while renal failure (moderate and beginning at the age of 38 years) was present in only one out of seven patients initially treated with B12." | 1.72 | Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia. ( Acquaviva, C; Benoist, JF; Brassier, A; Cano, A; Chabrol, B; De Lonlay, P; Fouilhoux, A; Guffon-Fouilhoux, N; Lachmann, R; Marelli, C; Murphy, E; Pennisi, A; Schiff, M; Servais, A, 2022) |
| "Methylmalonic acidemia is an inherited organic acid metabolic disease." | 1.62 | A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients. ( Chen, X; Chen, Y; Feng, J; Gong, Z; Gu, X; Han, L; Hu, H; Ji, W; Liang, L; Lu, D; Niu, T; Qiu, W; Shen, L; Shuai, R; Wei, H; Wu, S; Xu, P; Yang, C; Ye, J; Yu, Y; Zhan, X; Zhang, H; Zou, H, 2021) |
| "Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance." | 1.62 | Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria. ( Kowalik, A; MacDonald, A; Sykut-Cegielska, J, 2021) |
| "Methylmalonic Acidurias (MMAs) are a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methylmalonyl-CoA mutase, methylmalonyl-CoA epimerase, and cobalamin metabolism." | 1.56 | A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy. ( Brindisino, P; Cicalini, I; Consalvo, A; De Laurenzi, V; Dionisi-Vici, C; Gasparroni, G; Gazzolo, D; Pieragostino, D; Rizzo, C; Rossi, C; Semeraro, D; Valentinuzzi, S; Zucchelli, M, 2020) |
| "In 9 mothers, vitamin B12 deficiency was verified, and 6 showed no indication for vitamin B12 deficiency." | 1.56 | Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots. ( Blessing, H; Lotz-Havla, AS; Maier, EM; Röschinger, W; Schiergens, KA; Weiss, KJ, 2020) |
| "Proteinuria were a primary presenting symptom, followed by anemia and neurologic symptoms (frequent convulsions and unstable walking, respectively)." | 1.56 | Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report. ( Chen, LQ; Chen, RY; Chen, XQ; Li, XZ; Lin, Q; Shen, YY; Wu, HY; Xu, QY; Zhu, XM; Zhu, Y, 2020) |
| "Preterm birth was associated with lower birth weight and increased MMA marker levels suggesting that gestational age is the stronger predictive covariate compared to birth weight." | 1.51 | Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns. ( Cowan, TM; de Fontnouvelle, CA; Enns, GM; Peng, G; Scharfe, C; Zhao, H, 2019) |
| "He had a family history of primary pulmonary hypertension in a sister." | 1.51 | Primary Pulmonary Hypertension Associated with Asymptomatic Methylmalonic Aciduria in a Child. ( Chioukh, FZ; Monastiri, K, 2019) |
| "Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of the mitochondrial enzyme, methylmalonyl-CoA mutase (MCM)." | 1.48 | TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells. ( Erlich-Hadad, T; Feldman, A; Greif, H; Hadad, R; Lictenstein, M; Lorberboum-Galski, H, 2018) |
| "No methylmalonic acidemia has been reported in children with CDKL5 disorder." | 1.48 | A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. ( Akamine, S; Fukai, R; Hara, T; Ishizaki, Y; Kimura, M; Koga, H; Matsumoto, N; Miyake, N; Ohga, S; Ohkubo, K; Saitsu, H; Sakai, Y; Sakamoto, O; Sakata, A; Sanefuji, M; Torisu, H; Yamaguchi, S, 2018) |
| "Methylmalonic acidemia (MMA) is an autosomal recessive disease of organic acidemia." | 1.48 | Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report. ( Chang, HT; Chang, MY; Chu, CC; Hsu, YL; Zhao, Z, 2018) |
| "Methylmalonic aciduria (MMAuria) is an inborn error of metabolism leading to neurological deterioration." | 1.48 | New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria. ( Ballhausen, D; Baumgartner, M; Braissant, O; Cudré-Cung, HP; do Vale-Pereira, S; Forny, P; Gallart-Ayala, H; Gonzalez-Melo, M; Henry, H; Remacle, N; Teav, T, 2018) |
| "Methylmalonic acid (MMA) is a by-product of propionic acid metabolism through the vitamin B12 (cobalamin)-dependent enzyme methylmalonyl CoA mutase." | 1.43 | A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin. ( Abaan, HO; Bailey-Wilson, JE; Brody, LC; Casey, M; Cropp, CD; Cunningham, C; Kim, Y; McGaughey, DM; McNulty, H; Mills, JL; Molloy, AM; O'Neill, MB; Pangilinan, F; Shane, B; Strain, JJ; Ueland, PM; Velkova, A; Ward, M; Wilson, AF, 2016) |
| "Mild methylmalonic aciduria was detected by elevated urine methylmalonic acid and blood propionylcarnitine at the age of 6 months to 2 years and 8 months." | 1.43 | [Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria]. ( Ding, Y; Li, DX; Li, XY; Liu, YP; Qin, YP; Song, JQ; Wang, Q; Yang, YL; Zhang, Y, 2016) |
| "We report the first case of acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA in China." | 1.42 | [Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA]. ( Ding, Y; Li, X; Liu, Y; Song, J; Wang, H; Wang, Q; Wu, T; Yang, Y; Zhang, Y, 2015) |
| "Methylmalonic Acidemia (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine." | 1.42 | Methylmalonic Acidemia. ( Ali, S; Awais Ul Hassan Shah, S; Mahmud, S, 2015) |
| " Oxidative stress and excitotoxicity have been involved in the toxic pattern exerted by these organic acids." | 1.42 | The effect of WIN 55,212-2 suggests a cannabinoid-sensitive component in the early toxicity induced by organic acids accumulating in glutaric acidemia type I and in related disorders of propionate metabolism in rat brain synaptosomes. ( Colín-González, AL; Leipnitz, G; Paz-Loyola, AL; Ribeiro, CA; Santamaría, A; Seminotti, B; Serratos, IN; Souza, DO; Wajner, M, 2015) |
| "Malignant hypertension was diagnosed." | 1.40 | Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency. ( Benoist, JF; Cornec-Le Gall, E; De Parscau, L; Delmas, Y; Doucet, L; Fremeaux-Bacchi, V; Le Meur, Y; Ogier, H, 2014) |
| "Methylmalonic acidemia (MMA) is a metabolic disorder, which is caused by a deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase." | 1.40 | A Primary Study on Down-Regulated miR-9-1 and Its Biological Significances in Methylmalonic Acidemia. ( Duan, R; Gao, H; Guan, W; Jia, Y; Li, Y; Peng, T; Teng, J; Wang, X, 2014) |
| "Methylmalonic aciduria is a rare disorder of organic acid metabolism with limited therapeutic options, resulting in high morbidity and mortality." | 1.40 | Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector. ( Anson, DS; Fletcher, JM; McIntyre, C; Peters, HL; Ranieri, E; Wong, ES, 2014) |
| "Methylmalonic acidemia (MMA) is an autosomal-recessive inborn metabolic disorder that results from a deficiency in methylmalonyl-coenzyme A mutase or its cofactor, adenosylcobalamin." | 1.40 | MicroRNA-9 regulates neural apoptosis in methylmalonic acidemia via targeting BCL2L11. ( Duan, R; Gao, H; Guan, W; Jia, Y; Li, L; Li, Y; Lu, J; Peng, T; Teng, J; Wang, X, 2014) |
| "Presently pregnancy is no more exceptional in women with metabolic diseases." | 1.39 | Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report. ( Bellelli, E; Carducci, C; Elli, M; Gentile, I; Labriola, D; Lubrano, R; Paoli, S; Pérez, B; Santagata, S; Ugarte, M, 2013) |
| "The methylmalonic acidemia is an inborn error of metabolism (IEM) characterized by methylmalonic acid (MMA) accumulation in body fluids and tissues, causing neurological dysfunction, mitochondrial failure and oxidative stress." | 1.39 | Chronic administration of methylmalonate on young rats alters neuroinflammatory markers and spatial memory. ( Bobinski, F; da Silva Fiorin, F; de Oliveira Ferreira, AP; de Oliveira, CV; Della-Pace, ID; Dos Santos, AR; Duarte, MM; Fighera, MR; Funck, VR; Furian, AF; Nogueira, CW; Oliveira, MS; Pinton, S; Ribeiro, LR; Royes, LF, 2013) |
| "Acute renal failure was induced by gentamicin, an aminoglycoside antibiotic whose utilization over prolonged periods causes nephrotoxicity." | 1.39 | Acute renal failure potentiates methylmalonate-induced oxidative stress in brain and kidney of rats. ( Alves, L; Dal-Pizzol, F; Felisberto, F; Ferreira, GC; Freitas, BW; Petronilho, F; Pettenuzzo, LF; Rodrigues, LB; Schuck, PF; Streck, EL, 2013) |
| "Methylmalonic aciduria is an inborn error of metabolism characterized by accumulation of methylmalonate (MMA), propionate and 2-methylcitrate (2-MCA) in body fluids." | 1.39 | Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures. ( Ballhausen, D; Bonafé, L; Braissant, O; Henry, H; Jafari, P; Zavadakova, P, 2013) |
| "Methylmalonic aciduria is a common inherited metabolic disorder." | 1.37 | Prenatal diagnosis of methylmalonic aciduria by measuring methylmalonic acid in dried amniotic fluid on filter paper using gas chromatography-mass spectrometry. ( Inoue, Y; Ohse, M, 2011) |
| "Methylmalonic acidemia (MMA) is an organic acidemia caused by deficient activity of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT)." | 1.36 | Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy. ( Chandler, RJ; Venditti, CP, 2010) |
| "Methylmalonic acidemia is a lethal inborn error of metabolism that causes mitochondrial impairment, multi-organ dysfunction and a shortened lifespan." | 1.36 | Ion-abrasion scanning electron microscopy reveals distorted liver mitochondrial morphology in murine methylmalonic acidemia. ( Chandler, RJ; Lowekamp, BC; Murphy, GE; Narasimha, R; Subramaniam, S; Venditti, CP; Zerfas, PM, 2010) |
| "Methylmalonic acidemia (MMA) is a multifactorial autosomal recessive inborn error of organic acid metabolism, often presenting with neurological symptoms." | 1.35 | Fractional anisotropy for assessment of white matter tracts injury in methylmalonic acidemia. ( Gao, Y; Guan, WY; Han, LS; Li, YH; Wang, J; Zhang, YZ, 2009) |
| "Methylmalonic acidaemia (MMA) is a genetic disorder caused by defects in methylmalonyl-CoA mutase or in any of the different proteins involved in the synthesis of adenosylcobalamin." | 1.35 | Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. ( Aldamiz-Echevarría, L; Campos, J; Cornejo, V; Del Toro, M; Desviat, LR; García, MJ; Mahfoud, A; Martínez, MA; Martínez-Pardo, M; Merinero, B; Parini, R; Pedrón, C; Peña-Quintana, L; Pérez, B; Pérez, M; Pérez-Cerdá, C; Pourfarzam, M; Rincón, A; Sala, PR; Ugarte, M, 2008) |
| "Methylmalonic acidemia (MMA) is an inborn disorder of amino acid metabolism, often presenting with neurological symptoms." | 1.33 | Magnetic resonance imaging and diffusion-weighted imaging in methylmalonic acidemia. ( Ayata, A; Baykal, B; Koroglu, M; Oktem, F; Oral, B; Oyar, O; Yeşildağ, A; Yildiz, H, 2005) |
| "Methylmalonic acidaemia (MMA) is a rare autosomal recessive inborn error of metabolism that typically presents in infancy with recurrent episodes of metabolic acidosis, developmental delay and failure to thrive." | 1.33 | Management of methylmalonic acidaemia by combined liver-kidney transplantation. ( Enns, GM; Millan, MT; Nagarajan, S; Sarwal, MM; Winter, S, 2005) |
| "Methylmalonic aciduria is a common organic aciduria disease." | 1.33 | Clinical and biochemical studies on Chinese patients with methylmalonic aciduria. ( Hasegawa, Y; Jiang, Y; Qin, J; Song, J; Sun, F; Wu, X; Yamaguchi, S; Yang, Y; Zhang, Y, 2006) |
| "Methylmalonic aciduria is a human autosomal recessive disorder of organic acid metabolism resulting from a functional defect in the activity of the enzyme methylmalonyl-CoA mutase." | 1.32 | A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality. ( Fowler, KJ; Gazeas, S; Ioannou, PA; Kahler, SG; Nefedov, M; Peters, H; Pitt, J; Sarsero, J, 2003) |
| "Methylmalonic aciduria (MMA) is an autosomal recessive inborn error of metabolism that results from functional defects in methylmalonyl CoA mutase (MCM), a nuclear-encoded, mitochondrial enzyme that uses the vitamin B12 derivative, adenosylcobalamin (AdoCbl) as a cofactor." | 1.30 | Seven novel mutations in mut methylmalonic aciduria. ( Adjalla, CE; Chan, A; Evans, S; Gilfix, BM; Hosack, AR; Lamothe, E; Matiaszuk, NV; Rosenblatt, DS; Sun, S, 1998) |
| "Methylmalonic acidemia is an inborn error of organic acid metabolism resulting from defects in methylmalonyl CoA mutase." | 1.30 | Plasma amino acid and urine organic acid analyses of methylmalonic acidemia in a Thai infant. ( Chokchaichamnankit, D; Liammongkolkul, S; Srisomsap', C; Svasti, J; Wasant, P, 1999) |
| "In patients diagnosed as Reye syndrome, tissue carnitine deficiency was not always recognized and no decrease in the free/total carnitine ratio was found in the liver or muscle." | 1.28 | Carnitine deficiency in inherited organic acid disorders and Reye syndrome. ( Kidouchi, K; Kobayashi, M; Sugiyama, N; Wada, Y, 1990) |
| "l-Carnitine was given to three of these patients; in each case, concentrations of plasma and urine carnitines increased accompanied by a marked increase in concentrations of short-chain acylcarnitines." | 1.27 | Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine. ( Chalmers, RA; Hoppel, CL; Roe, CR; Stacey, TE, 1984) |
| "Methylmalonic aciduria and Hartnup disorder are two rare autosomal recessively inherited metabolic disorders." | 1.27 | Occurrences of methylmalonic aciduria and Hartnup disorder in the same family. ( Coulombe, JT; Duran, M; Shih, VE; Wadman, SK; Waelkens, JJ, 1984) |
| "Carnitine metabolism was studied and a therapeutic trial with L-carnitine was undertaken in 3 patients with methylmalonic aciduria." | 1.27 | [Carnitine in the treatment of methylmalonic aciduria (MMA)]. ( Otten, A; Penn, D; Schmidt, H; Schmidt-Sommerfeld, E, 1986) |
| " In addition a dose-response effect of alanine was observed." | 1.27 | Alanine decreases the protein requirements of infants with inborn errors of amino acid metabolism. ( Algert, S; Kelts, DG; Nyhan, WL; Prodanos, C; Wolff, JA, 1985) |
| "Methylmalonic acid was isolated from multiple urine samples, purified, and analyzed by 13C nuclear magnetic resonance spectroscopy." | 1.25 | [13C]Valine metabolism in methylmalonicacidemia using nuclear magnetic resonance: propinonate as an obligate intermediate. ( Armitage, IM; Hsia, YE; Lipsky, SR; Ramsdell, HS; Rosenberg, LE; Tanaka, K, 1975) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 113 (29.89) | 18.7374 |
| 1990's | 74 (19.58) | 18.2507 |
| 2000's | 66 (17.46) | 29.6817 |
| 2010's | 73 (19.31) | 24.3611 |
| 2020's | 52 (13.76) | 2.80 |
| Authors | Studies |
|---|---|
| Alfadhel, M | 1 |
| Nashabat, M | 1 |
| Saleh, M | 1 |
| Elamin, M | 1 |
| Alfares, A | 2 |
| Al Othaim, A | 1 |
| Umair, M | 1 |
| Ahmed, H | 1 |
| Ababneh, F | 1 |
| Al Mutairi, F | 1 |
| Eyaid, W | 1 |
| Alswaid, A | 1 |
| Alohali, L | 1 |
| Faqeih, E | 1 |
| Almannai, M | 1 |
| Aljeraisy, M | 1 |
| Albdah, B | 1 |
| Hussein, MA | 1 |
| Rahbeeni, Z | 1 |
| Alasmari, A | 1 |
| Matmat, K | 1 |
| Guéant-Rodriguez, RM | 1 |
| Oussalah, A | 1 |
| Wiedemann-Fodé, A | 1 |
| Dionisi-Vici, C | 10 |
| Coelho, D | 2 |
| Guéant, JL | 1 |
| Conart, JB | 1 |
| Jin, L | 1 |
| Han, X | 1 |
| He, F | 1 |
| Zhang, C | 1 |
| Wood, WD | 1 |
| Elmaghrabi, A | 1 |
| Gotway, G | 1 |
| Wolf, MTF | 1 |
| Brennerová, K | 1 |
| Škopková, M | 1 |
| Ostrožlíková, M | 1 |
| Šaligová, J | 1 |
| Staník, J | 1 |
| Bzdúch, V | 1 |
| Gašperíková, D | 1 |
| Pappas, KB | 1 |
| Younan, M | 1 |
| Conway, R | 1 |
| Longo, N | 2 |
| Sass, JO | 1 |
| Jurecka, A | 2 |
| Vockley, J | 2 |
| Nguyen, MG | 1 |
| Tronick, L | 1 |
| Modirian, F | 1 |
| Mardach, R | 1 |
| Besterman, AD | 1 |
| Kacpura, A | 1 |
| Frigeni, M | 1 |
| Gunther, K | 1 |
| Farach, L | 1 |
| Song, D | 1 |
| Lv, Y | 1 |
| Wang, H | 2 |
| Ge, J | 1 |
| Li, T | 1 |
| Chen, Y | 3 |
| Waisbren, SE | 1 |
| Liu, Y | 9 |
| Chen, Z | 1 |
| Kang, L | 2 |
| He, R | 2 |
| Song, J | 4 |
| Shi, C | 1 |
| Chen, J | 1 |
| Dong, H | 4 |
| Zhang, Y | 10 |
| Ma, Y | 1 |
| Wu, T | 2 |
| Wang, Q | 5 |
| Ding, Y | 5 |
| Li, X | 2 |
| Li, D | 2 |
| Li, M | 2 |
| Jin, Y | 4 |
| Qin, J | 6 |
| Yang, Y | 6 |
| Briso-Montiano, Á | 1 |
| Vilas, A | 1 |
| Richard, E | 2 |
| Ruiz-Sala, P | 1 |
| Morato, E | 1 |
| Desviat, LR | 3 |
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| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach[NCT04176523] | 75 participants (Anticipated) | Observational | 2019-01-15 | Recruiting | |||
| Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect[NCT01793090] | Phase 2 | 30 participants (Actual) | Interventional | 2013-01-31 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
43 reviews available for methylmalonic acid and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
Topics: Amino Acid Metabolism, Inborn Errors; Homocystinuria; Humans; Macular Degeneration; Methylmalonic Ac | 2022 |
Prevalence of methylmalonic acidemia among newborns and the clinical-suspected population: a meta-analyse.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screenin | 2022 |
Biomarkers for drug development in propionic and methylmalonic acidemias.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Drug Development; Humans; Methylmalonic Acid; Prop | 2022 |
Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.
Topics: Amino Acid Metabolism, Inborn Errors; Autism Spectrum Disorder; Carrier Proteins; Homocystinuria; Hu | 2022 |
Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Humans; Methylmalonic Acid; Methylmalonyl-CoA Mutase; M | 2022 |
The Regulation and Characterization of Mitochondrial-Derived Methylmalonic Acid in Mitochondrial Dysfunction and Oxidative Stress: From Basic Research to Clinical Practice.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Methylmalonic Acid; Mitochondria; Oxidative Stress; Vi | 2022 |
Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Dependovirus; Genomics; Humans; Methylmalonic Acid; Methylmalo | 2022 |
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Kidney Transplantation; Liver Transplantation; Methylm | 2023 |
New insights into the pathophysiology of methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mitochon | 2023 |
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Disease Progression; Humans; Methylmalonic Acid; M | 2023 |
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Methylmalonic Acid; Propionic Acidemia; Rare Diseases; | 2023 |
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Diseases, Metabolic, Inborn; Energy Meta | 2021 |
Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review.
Topics: Amino Acid Metabolism, Inborn Errors; Atypical Hemolytic Uremic Syndrome; Carrier Proteins; Child, P | 2017 |
Organic acidurias in adults: late complications and management.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Glutaryl-CoA Dehydrogenase; | 2018 |
[Advances in the clinical and laboratory studies on methylmalonic aciduria combined with homocysteinemia type cblC].
Topics: Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Betaine; Carrier Proteins; Child; China; | 2013 |
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Child; Child, Preschool; | 2014 |
Causes of and diagnostic approach to methylmalonic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Cobamides; Genetic Complementation Test; Humans; Methylmalonic | 2008 |
Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Child, Preschool; Female; Humans; Infant; Infa | 2008 |
Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Energy Metabolism; Humans; Methylmalonic Acid; Mitochondria; N | 2011 |
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Child; Child, Preschool; Female; | 2012 |
Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.
Topics: Amino Acid Metabolism, Inborn Errors; Diet; Dietary Supplements; Genotype; Humans; Kidney Transplant | 2013 |
Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Humans; Kidney Failure, Chronic; Methylmalonic Acid | 2004 |
Methylmalonic acidemia (MMA).
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Intestinal Absorption; Methylmalonic Acid; Methylmalon | 2005 |
Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Developmental Disabilities; Humans; Kidney T | 2008 |
[Measurement of methylmalonic acid, homocysteine and methionine in cobalamin and folate deficiencies and homocysteinuria].
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Diagnosis, Differential; Folic Acid; Folic Acid De | 2008 |
Organic acidemias: a methylmalonic and propionic focus.
Topics: Acidosis; Aftercare; Amino Acid Metabolism, Inborn Errors; Diet, Protein-Restricted; Early Diagnosis | 2008 |
Vitamin-responsive inborn errors of metabolism.
Topics: Acetyl-CoA Carboxylase; Acidosis; Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Folic Acid; | 1983 |
CT and MR of the brain in disorders of the propionate and methylmalonate metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Basal Ganglia; Brain; Cerebral Ventricles; Cerebral Ventriculo | 1994 |
[A molecular study of methylmalonic aciduria: structure-function correlations].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Humans; Methylmalonic Acid; Mol | 1996 |
Stable isotope studies in propionic and methylmalonic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Fatty Acids; Humans; Isotope Labeling; Methylmalonic Acid; Oxi | 1997 |
Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations.
Topics: Acrodermatitis; Amino Acid Metabolism, Inborn Errors; Biopsy; Cheilitis; Female; Humans; Infant, New | 1997 |
Methylmalonic aciduria (cblF): case report and response to therapy.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Female; Humans; Methylmalonic Acid; Propionates; V | 1998 |
Branched-chain organic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Diagnosis, Differential; Glycine; | 2002 |
Organic acidemias.
Topics: Acidosis, Renal Tubular; Acids; Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammoni | 1976 |
The dietary therapy of inherited metabolic disease.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C | 1975 |
Amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Biological Transport, Active; Carnitine; | 1976 |
[Congenital metabolic acidosis in the postnatal period].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Fructose-1,6-Diphosphatase Deficiency; Glutarates; G | 1978 |
[Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant, Newborn; Ketosis; Malonates; Methylmal | 1977 |
[Some clinical and therapeutic aspects of organico-acidemia and organico-aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Butyrates; Humans; Maple Syrup Urine Disease; Met | 1977 |
The dietary treatment of inborn errors of metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Child; Female; Folic Acid; | 1976 |
Treating genetic diseases: lessons from three children.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Genetic Diseases, Inborn; Genetic Therapy; Hum | 1990 |
Recent advances in the inherited methylmalonic acidemias.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Malonates; Methylmalonic Acid; Methylmalonyl-CoA Mutas | 1987 |
Biochemical foundations of preventive medicine: the study of abnormal enzymes.
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Cystathionine gamma-Lyase; Erythrocytes; Genes, | 1974 |
7 trials available for methylmalonic acid and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
Topics: Amino Acid Metabolism, Inborn Errors; Glutamates; Humans; Methylmalonic Acid; Propionic Acidemia; Pr | 2021 |
Oxidative stress parameters in urine from patients with disorders of propionate metabolism: a beneficial effect of L:-carnitine supplementation.
Topics: Amino Acid Metabolism, Inborn Errors; Antioxidants; Carnitine; Child; Child, Preschool; Diet, Protei | 2012 |
[Clinical studies on fifty-seven Chinese patients with combined methylmalonic aciduria and homocysteinemia].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Anemia; Carnitine; Child; Child, Preschool; | 2007 |
Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD).
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Bacteremia; Blood Gas Analysis; B | 1994 |
Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Combined Modality Therapy; Diet | 1994 |
Propionylcarnitine excretion is not affected by metronidazole administration to patients with disorders of propionate metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Antitrichomonal Agents; Carnitine; Child, Preschool; Humans; I | 1996 |
The use of metronidazole in management of methylmalonic and propionic acidaemias.
Topics: Amino Acid Metabolism, Inborn Errors; Breath Tests; Child, Preschool; Feces; Humans; Hydrogen; Infan | 1990 |
328 other studies available for methylmalonic acid and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency.
Topics: Acute Kidney Injury; Amino Acid Metabolism, Inborn Errors; Atypical Hemolytic Uremic Syndrome; Femal | 2022 |
Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.
Topics: Amino Acid Metabolism, Inborn Errors; Genetic Testing; Humans; Infant, Newborn; Methylmalonic Acid; | 2021 |
Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Humans; Hydroxocobalamin; Infant, Newborn; Methylmaloni | 2022 |
Clinical and biochemical outcomes in cobalamin C deficiency with use of high-dose hydroxocobalamin in the early neonatal period.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Hydroxocobalamin; Infant, Newborn; Methylmalon | 2022 |
Investigation and Analysis of Blood Biochemical Indexes and Molecular Biology of Methylmalonic Acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Humans; Infant, Newborn; Methylmalonic Acid; Molecular | 2022 |
Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Child; Female; Humans; Methylmalonic Acid; Pre | 2022 |
Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning.
Topics: Adaptor Proteins, Signal Transducing; Amino Acid Metabolism, Inborn Errors; Animals; Hepatocytes; Hu | 2022 |
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Humans; Intellectual Disability; Kidney Failure, | 2022 |
Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screenin | 2023 |
Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.
Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; China; Drug Resistant Epilepsy; Female; Genot | 2022 |
Elevated methylmalonic acid as an acquired inborn error of metabolism in a domino liver transplant recipient.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Methylmalonic Acid; Transplant Recipients; Vitamin B 1 | 2022 |
Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; HEK293 Cells; Humans; Methylmalonic Acid; Methylmalonyl-CoA Mu | 2023 |
Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Topics: Amino Acid Metabolism, Inborn Errors; Genetics, Medical; Genomics; Humans; Methylmalonic Acid; Organ | 2023 |
Pearls & Oy-sters: Late-Onset Cobalamin C Deficiency Presenting With Subacute Combined Degeneration.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Methylmalonic Acid; Spinal Cord | 2023 |
Neurologic outcome following liver transplantation for methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Humans; Lactic Acid; Liver Transplantation; Methyl | 2023 |
Late-onset cblC defect: clinical, biochemical and molecular analysis.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Homocys | 2023 |
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Cell Line; Exome Sequencing; Female; Fibroblast | 2020 |
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
Topics: Adolescent; Age of Onset; Amino Acid Metabolism, Inborn Errors; Asian People; Child; Child, Preschoo | 2020 |
In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Anxiety; Bone Density; Disease Models, Animal; Female | 2020 |
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Topics: Amino Acid Metabolism, Inborn Errors; Cognition; Female; Humans; Infant, Newborn; Kaplan-Meier Estim | 2020 |
Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Humans; Metabolism, Inborn Errors; Methylmalonic Acid | 2020 |
Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach.
Topics: Amino Acid Metabolism, Inborn Errors; Biochemical Phenomena; Humans; Leucine; Methylmalonic Acid; Pr | 2020 |
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Liquid; Female; Humans; Infant, Newborn; Malnu | 2020 |
Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Female; Homocystinuria; Humans; Hypertension, Pulmonary | 2020 |
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Case-Control Studies; Cells, Cultured; Citrates; | 2020 |
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biomarkers; Child; Child, Preschool; Citrates; Fem | 2020 |
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Diagnosis, Differential; Dried Blood Spot Testing; | 2020 |
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Cross-Sectional Studies; Female; Glomerular Filtration | 2021 |
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Base Sequence; Carnitine; Child, Pres | 2020 |
Nutritional Management and Biochemical Outcomes during the Immediate Phase after Liver Transplant for Methylmalonic Acidemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Diet, P | 2020 |
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Topics: Amino Acid Metabolism, Inborn Errors; China; Humans; Infant, Newborn; Methylmalonic Acid; Mutation; | 2021 |
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Humans; Methylmalonic Acid; Methylmalonyl-CoA Mutase; M | 2021 |
Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Diet; Dietary Supplements; Female; Humans; | 2021 |
Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amniocentesis; Carboxy-Lyases; Coenzyme A Ligases; Fema | 2021 |
Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Homocysteine; Homocystinuria; Humans; | 2021 |
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
Topics: Amino Acid Metabolism, Inborn Errors; ATP-Binding Cassette Transporters; Female; Genetic Predisposit | 2021 |
[Clinical and genetic studies on 76 patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Hydrocephalus; Infant, Newborn; Male; M | 2021 |
[MOLECULAR-GENETIC ASPECTS OF METHYLMALONIC ACIDURIA DEVELOPMENT (REVIEW)].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Methylmalonic Acid; Methylmalonyl-CoA M | 2021 |
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Metabolism, Inborn Errors; Animals; Female; H | 2021 |
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Liquid; Citrates; Dried Blood Spot Testing; Fe | 2017 |
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Codon, Nonsense; Humans; Male; Methylmalonic | 2017 |
TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells.
Topics: Adenosine Triphosphate; Amino Acid Metabolism, Inborn Errors; CRISPR-Cas Systems; Escherichia coli; | 2018 |
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Brain Diseases; Humans; Male; Methionine; Methylma | 2018 |
Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Antigens, CD; Child; Humans; Infant, New | 2018 |
[Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Child; Child, Preschool; | 2018 |
Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report.
Topics: Acute Kidney Injury; Adult; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Electric | 2018 |
New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonium Compounds; Animals; Brain; Brain Injuries; Humans; Me | 2018 |
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Birth Weight; Black or African American; Californi | 2019 |
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Glycine N-Methyltransferas | 2019 |
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cros | 2019 |
Clinical Application of LC-MS/MS in the Follow-Up for Treatment of Children with Methylmalonic Aciduria.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; China; Chromatography, Hi | 2019 |
Primary Pulmonary Hypertension Associated with Asymptomatic Methylmalonic Aciduria in a Child.
Topics: Amino Acid Metabolism, Inborn Errors; Cyanosis; Familial Primary Pulmonary Hypertension; Fatal Outco | 2019 |
Increased susceptibility of brain acetylcholinesterase activity to methylmalonate in young rats with renal failure.
Topics: Acetylcholinesterase; Amino Acid Metabolism, Inborn Errors; Analysis of Variance; Animals; Brain; Ch | 2013 |
Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Carnitine; Citrates; Exons; Female; Humans; Inf | 2013 |
Renal growth in isolated methylmalonic acidemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cross-Sectional St | 2013 |
[Analysis of propionylcarnitine in blood and methylmalonic acid in urine of 162 patients with methylmalonic acidemia].
Topics: Acetylcarnitine; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Case-Control St | 2013 |
Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Follow-Up Studies; Glomerular F | 2013 |
Chronic administration of methylmalonate on young rats alters neuroinflammatory markers and spatial memory.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Biomarkers; Cerebral Cortex; Gene E | 2013 |
[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Carnitine; Child; Child, Preschool | 2013 |
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Exome; Female; Humans; Methylmalonate-Semial | 2013 |
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; La | 2013 |
Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Antibodies, Monoclonal, Humanized; Betaine; Biopsy; Car | 2014 |
A Primary Study on Down-Regulated miR-9-1 and Its Biological Significances in Methylmalonic Acidemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Animals; Apoptosis; Case-Control Studies; Cells, C | 2014 |
Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Codon; Female; Gene Expression; Genetic Engineering; | 2014 |
MicroRNA-9 regulates neural apoptosis in methylmalonic acidemia via targeting BCL2L11.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Apoptosis; Apoptosis Regulatory Proteins; Bcl-2-Like | 2014 |
A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Humans; Kidney; Kidney Failure, Chronic; Kidney | 2014 |
[Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA].
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Carnitine; Diet, Protein-Restricted; Hepatitis | 2015 |
Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Liver Transplantation; Male; Methylma | 2015 |
Methylmalonic Acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Child, Preschool; Diet, Protein-Restricted; Humans; Mal | 2015 |
Toxic synergism between quinolinic acid and organic acids accumulating in glutaric acidemia type I and in disorders of propionate metabolism in rat brain synaptosomes: Relevance for metabolic acidemias.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Diseases, Metabolic; Disease Models, Ani | 2015 |
The effect of WIN 55,212-2 suggests a cannabinoid-sensitive component in the early toxicity induced by organic acids accumulating in glutaric acidemia type I and in related disorders of propionate metabolism in rat brain synaptosomes.
Topics: Acids, Acyclic; Amino Acid Metabolism, Inborn Errors; Animals; Benzoxazines; Brain; Brain Diseases, | 2015 |
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Child; Child, Preschoo | 2016 |
Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.
Topics: Amino Acid Metabolism, Inborn Errors; Carrier Proteins; China; DNA Mutational Analysis; Female; Gene | 2016 |
Impact of age at onset and newborn screening on outcome in organic acidurias.
Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Disorder | 2016 |
Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Coenzyme A Ligases; Female; Genetic Testing; | 2016 |
A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.
Topics: Abnormalities, Multiple; Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Case-Control | 2016 |
[Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Asian People; Carnitine; Diagnosis, Differential; DNA Mutation | 2016 |
Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias.
Topics: Acetylcarnitine; Algorithms; Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Chromatogr | 2017 |
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Child; Child, Preschool; C | 2016 |
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Biomarkers; Brain; Carnitine; Dietary Protei | 2016 |
Methylmalonic aciduria: current faces of a "classical" organic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screenin | 2008 |
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Hydroxocob | 2008 |
Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screenin | 2008 |
Peritoneal dialysis for chronic renal failure in a patient with methylmalonic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Kidney Failure, Chronic; Kidney Transplantatio | 2009 |
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Cobamides; Family Health; Female; Fibroblasts | 2009 |
[Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Base Sequence; Carrier Proteins; | 2009 |
Late onset optic neuropathy in methylmalonic and propionic acidemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dietary Supplements; Female; Humans; Male; Methylm | 2009 |
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Citric Acid Cycle; DNA, Mitochondrial; Electron Transpo | 2009 |
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Disease Progressio | 2009 |
Creatine metabolism in combined methylmalonic aciduria and homocystinuria disease revisited.
Topics: Amino Acid Metabolism, Inborn Errors; Creatine; Homocystinuria; Humans; Methylmalonic Acid | 2009 |
Fractional anisotropy for assessment of white matter tracts injury in methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Anisotropy; Brain; Diffusion Magnetic Resonance Imaging; Femal | 2009 |
[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Cysteine; DNA; DNA Mutational Analysis; Exons; Humans; Hyperho | 2009 |
Metabolic and hemodynamic advantages of an acetate-free citrate dialysate in a uremic case of congenital methylmalonic acidemia.
Topics: Acetates; Adult; Amino Acid Metabolism, Inborn Errors; Blood Pressure; Citrates; Female; Heart Rate; | 2009 |
[Analysis of the MUT gene mutations in patients with methylmalonic acidemia].
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; China; Female; Humans; Infant; Infant, Newborn; | 2009 |
Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cells, Cultured; Electron Transport; Glutathione; Hum | 2009 |
Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Blotting, Western; Dependovirus; Genetic Therapy; Gen | 2010 |
N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria.
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Ammonia; Emergency Medical Services; Female; Gl | 2010 |
[Enteropathic acrodermatitis-like lesions in valine deficiency methylmalonic acidaemia].
Topics: Acrodermatitis; Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Intestinal Diseases; M | 2010 |
Teaching NeuroImages: MRI in methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Globus Pallidus; Humans; Infant; Magnetic Resonance Im | 2010 |
Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Cobamides; Fluorometry; Homocy | 2010 |
Ion-abrasion scanning electron microscopy reveals distorted liver mitochondrial morphology in murine methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Blotting, Western; Methylmalonic Acid; Mice; Microsco | 2010 |
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Blood Specimen Collection; Carnitine; Case-Control | 2010 |
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Cell Line; Child; Child, Pres | 2010 |
Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.
Topics: Amino Acid Metabolism, Inborn Errors; Apoptosis; Apoptosis Regulatory Proteins; Blotting, Western; C | 2010 |
Methylmalonic aciduria and homocystinuria-associated maculopathy.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Homocysteine; Homocystinuria; Humans; Macula | 2010 |
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Carrier Proteins; Child, Preschool; Chi | 2010 |
[Analysis of clinical features and gene mutations in two Chinese pedigrees with late-onset methylmalonic acidemia, cblC type].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Asian People; Base Sequence; Carrier Proteins; Chi | 2010 |
Inborn errors of cobalamin absorption and metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Cobamides; Homocysteine; Humans; Hyperh | 2011 |
Intact recovery from early 'acquired methylmalonic aciduria' secondary to maternal atrophic gastritis.
Topics: Amino Acid Metabolism, Inborn Errors; Dietary Supplements; Female; Gastritis, Atrophic; Humans; Infa | 2011 |
Prenatal diagnosis of methylmalonic aciduria by measuring methylmalonic acid in dried amniotic fluid on filter paper using gas chromatography-mass spectrometry.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Gas Chromatography-Mass Spectrometry; | 2011 |
The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.
Topics: Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Cell Line; Cells, Cultured; Fibroblasts; Fol | 2011 |
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; Carboxy-Lyases; Coenzyme A Ligases; Ex | 2011 |
Serum cobalamin, urine methylmalonic acid, and plasma total homocysteine concentrations in Border Collies and dogs of other breeds.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biomarkers; Chromatography, Gas; Chromatography, High | 2012 |
[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; China; Female; Folic Acid; | 2012 |
Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Breeding; Codon, Nonsense; Disease Models, Animal; Fe | 2012 |
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Case-Control Studies; DNA Mutational Analysis; Exons; Humans; | 2012 |
Serum cobalamin and methylmalonic acid concentrations in dogs with chronic gastrointestinal disease.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Chronic Disease; Dog Diseases; Dogs; Female; Gas Chro | 2013 |
Acute renal failure potentiates methylmalonate-induced oxidative stress in brain and kidney of rats.
Topics: Acute Kidney Injury; Amino Acid Metabolism, Inborn Errors; Animals; Catalase; Cerebral Cortex; Creat | 2013 |
Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Apoptosis; Blotting, Western; Brain; Caspase 3; Cells | 2013 |
Novel mutations in a Thai patient with methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant, Newborn; Leukocytes; Methylmalonic Aci | 2003 |
N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Glutamates; Humans; Hyperammonemia; Inactivation, Metabolic; M | 2003 |
Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain.
Topics: Acyl Coenzyme A; Adenosine Triphosphate; Aging; Amino Acid Metabolism, Inborn Errors; Animals; Cattl | 2003 |
Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Brain; Diffusion; Humans; Magnetic Resonance Imagi | 2003 |
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality.
Topics: Alkyl and Aryl Transferases; Amino Acid Metabolism, Inborn Errors; Animals; Blotting, Southern; Carn | 2003 |
The impact of screening for propionic and methylmalonic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Humans; Infant, Newborn; Mass Spectrometry; | 2003 |
Successful dialysis in a boy with methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Humans; Kidney Failure, Chronic; Male; Methylmalonic Ac | 2004 |
Energy expenditure in patients with propionic and methylmalonic acidaemias.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Drug Combinations; Energ | 2004 |
Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Diet, Protein-Restricted; Humans; Kidney Failure, | 2004 |
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
Topics: Amino Acid Metabolism, Inborn Errors; Apoenzymes; Base Sequence; Child; Codon, Nonsense; DNA Mutatio | 2005 |
Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Female; Glycine; Hom | 2005 |
Magnetic resonance imaging and diffusion-weighted imaging in methylmalonic acidemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Diffusion Magnetic Resonance Imaging; Globus Pallidu | 2005 |
Management of methylmalonic acidaemia by combined liver-kidney transplantation.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Body Mass Index; Body Weight; Child; Developmental | 2005 |
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Cobamides; Female; Homocysteine; Homocystinuria; Huma | 2005 |
[Renal impairment in patients with methylmalonic aciduria: a review of five cases].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Gas Chromatography-Mass Spec | 2005 |
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; DNA Mutational Analysis; Family Health; Female; | 2006 |
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Diet, Protein-Restricted; Hearing Loss; Humans; Immunos | 2006 |
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Codon, Nonsense; Consanguinity; DNA Mutation | 2006 |
[A case report of methylmalonic acidemia].
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Methylmalonic Acid | 2006 |
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Apoenzymes; Child, Preschool; DNA Mutational Analy | 2007 |
Clinical and biochemical studies on Chinese patients with methylmalonic aciduria.
Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Biomarkers; Child; Child, Pre | 2006 |
Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
Topics: Acidosis; Alkyl and Aryl Transferases; Amino Acid Metabolism, Inborn Errors; DNA Mutational Analysis | 2007 |
Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl.
Topics: Amino Acid Metabolism, Inborn Errors; Codon, Nonsense; Female; Humans; Infant; Japan; Methylmalonic | 2007 |
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes.
Topics: Adenoviridae; Amino Acid Metabolism, Inborn Errors; Animals; Blotting, Western; Cell Line; Child, Pr | 2007 |
CE assay of methylmalonyl-coenzyme-a mutase activity.
Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Animals; Buffers; Electrophoresis, Capillary; | 2007 |
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
Topics: Adolescent; Adult; Age of Onset; Alkyl and Aryl Transferases; Amino Acid Metabolism, Inborn Errors; | 2007 |
Methylmalonic acidaemia in a 7-month-old following maternal highly active antiretroviral therapy during pregnancy.
Topics: Amino Acid Metabolism, Inborn Errors; Anti-HIV Agents; Antiretroviral Therapy, Highly Active; Female | 2007 |
Crystal structure and mutagenesis of the metallochaperone MeaB: insight into the causes of methylmalonic aciduria.
Topics: Acid-Base Imbalance; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Binding Sites; Human | 2007 |
Continuous hemodiafiltration in the treatment of hyperammonemia due to methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Hemodiafiltration; Hemofiltration; Humans; Hyperammonemia; Inf | 2007 |
Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).
Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; DNA Mutational Analysis; DNA, Complementary; Female | 2007 |
Metabolomics identifies perturbations in human disorders of propionate metabolism.
Topics: Acetylcarnitine; Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Biomarkers; Carnitine; Child; | 2007 |
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Topics: Alkyl and Aryl Transferases; Amino Acid Metabolism, Inborn Errors; Biomarkers; Cell Line; Cohort Stu | 2008 |
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Child; Chil | 2008 |
Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?
Topics: Amino Acid Metabolism, Inborn Errors; Female; Glutamates; Humans; Hyperammonemia; Infant, Newborn; M | 2008 |
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic, Inborn; C | 2008 |
Untargeted metabolomic analysis hits the target.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; Humans; Methylmalonic Ac | 2007 |
Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; China; Female; Gas | 2008 |
Looking beyond the basal ganglia: the spectrum of MRI changes in methylmalonic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Basal Ganglia; Brain Stem; Cerebellum; Child; Child, Preschool | 2008 |
[Prognosis of congenital methylmalonic aciduria. Correlations between tolerance to proteins, response to vitamin B12 and enzymatic defect (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Mal | 1980 |
[The neonatal acute form of methylmalonic acidemia. Report of 2 clinical cases].
Topics: Acidosis; Acute Disease; Amino Acid Metabolism, Inborn Errors; Female; Humans; Hyperglycemia; Infant | 1980 |
Inhibition by methylmalonate of glycine uptake by synaptosomes from rat spinal cord.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Glycine; Malonates; Methylmalonic Acid; Methylmalonyl | 1981 |
[Molecular pathology of the hyperglycinemias].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Animals; Brain; Carboxy-Lyases; Ca | 1982 |
L-carnitine for methylmalonicaciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Humans; Male; Malonates; Methylmalonic Acid | 1982 |
The inherited methylmalonic acidemias.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Alkyl and Aryl Transferases; Amino Acid M | 1982 |
The natural history of the inherited methylmalonic acidemias.
Topics: Amino Acid Metabolism, Inborn Errors; Cobamides; Humans; Infant; Infant, Newborn; Malonates; Methylm | 1983 |
Methylmalonic acidaemia due to mutase apoenzyme defect: responsive to vitamin B12 in intact fibroblasts but not in vivo.
Topics: Amino Acid Metabolism, Inborn Errors; Apoenzymes; Child, Preschool; Female; Fibroblasts; Humans; Mal | 1982 |
A radio-HPLC assay for the measurement of methylmalonyl-CoA mutase.
Topics: Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Child; Chromatography, High Pressure Liq | 1984 |
First-trimester (chorion biopsy) diagnosis of citrullinaemia and methylmalonicaciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Chorionic Villi; Citrulline; Female; Humans; Malonates; Methyl | 1984 |
L-Carnitine insufficiency in disorders of organic acid metabolism: response to L-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Glutarates; Humans; Malonates; Meglutol; Met | 1984 |
Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity.
Topics: Amino Acid Metabolism, Inborn Errors; Cytosol; Electron Transport Complex IV; Humans; Infant; Infant | 1982 |
Treatment of the cbl B form of methylmalonic acidaemia with adenosylcobalamin.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Bicarbonates; Child, Preschool; Cobamides; Female; Gl | 1984 |
Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.
Topics: Acids; Amino Acid Metabolism, Inborn Errors; Diuresis; Exchange Transfusion, Whole Blood; Hemiterpen | 1984 |
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
Topics: Acyl-CoA Dehydrogenases; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branc | 1984 |
Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Amniotic Fluid; Caproates; Female | 1984 |
Occurrences of methylmalonic aciduria and Hartnup disorder in the same family.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Female; Genes, Recessive; Genetic Linkage; | 1984 |
[Pharmacologic and dietetic treatment of 2 siblings with atypical methylmalonic aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Combined Modality Therapy; Female; Humans; Infant; Male | 1984 |
Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups.
Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Humans; Infant; Malonates; | 1983 |
Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Child, Preschool; Cystathionine; Growth D | 1984 |
The stable isotope dilution method for measurement of methylmalonic acid: a highly accurate approach to the prenatal diagnosis of methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Gas Chromatography-Mass Spectrometry; | 1982 |
Excretion pattern of branched-chain amino acid metabolites during the course of acute infections in a patient with methylmalonic acidaemia.
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Bacterial Infectio | 1980 |
B12-unresponsive methylmalonic aciduria in a female infant.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Malonates; Methylmalonic Acid; Vitamin | 1980 |
Methylmalonic aciduria in a black female child with congenital short femur on the right side.
Topics: Amino Acid Metabolism, Inborn Errors; Black People; Female; Femur; Humans; Infant; Male; Malonates; | 1981 |
Possible explanation for hyperglycinaemia in propionic acidaemia and methylmalonic acidaemia: propionate and methylmalonate inhibit liver and brain mitochondrial clycine transport.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biological Transport; Brain; Cerebral Cortex; Glycine | 1980 |
[Combined exchange transfusion and peritoneal dialysis treatment in a neonatal case of methylmalonic acidemia with severe hyperammonemia].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Dietary Proteins; Exchan | 1982 |
Stimulation of ketogenesis by propionate in isolated rat hepatocytes: an explanation for ketosis associated with propionic acidaemia and methylmalonic acidaemia?
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Animals; Carbon Dioxide; Cells, Cultured; Fatty Acid | 1982 |
[Methylmalonic acidemia. A new method of diagnosis].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Gas; Chromatography, Thin Layer; | 1983 |
Methylmalonic acid excretion in methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Humans; Infant, Newborn; Male; Malonates; Me | 1980 |
[A case of metabolic encephalopathy caused by vitamin B 12-dependent methylmalonicoaciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Female; Humans; Infant; Malonates; | 1981 |
Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Chromatography, Liquid; Citrates; Female; Gas | 1980 |
Methylmalonic acidemia with the unusual complication of severe hyperglycemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Gas Chromatography-Mass Spectrometry; Humans; Hyperg | 1982 |
A sensitive micromethod for the routine estimation of methylmalonic acid in body fluids and tissues using thin layer chromatography.
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatograp | 1982 |
The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia.
Topics: Acetyl-CoA C-Acyltransferase; Acyl Coenzyme A; Acyltransferases; Amino Acid Metabolism, Inborn Error | 1982 |
Screening for metabolic disease in a metropolitan hospital.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Hospitals, Municipal; Humans; Infant, Newborn; Me | 1982 |
[Methylmalonic aciduria. A case report].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Female; Humans; Infant; Malonates; | 1982 |
[Human fibroblast bank for studying amino acid disorders and organic acidemias].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Cell Line; Cells, Cultured; Child; Child, Preschool; | 1982 |
Hyperammonemia secondary to hereditary organic acidurias: a study of 29 cases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Hemiterpenes; Humans; Infant, Newborn; Methylmalonic | 1982 |
[Methylmalonic aciduria - diagnosis and therapy using as example 2 cases of this genetic metabolic disorder].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Thin Layer; Humans; Infant, Newbo | 1982 |
Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Creatinine; Dietary Proteins; Fema | 1981 |
Corneal involvement in methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Cornea; Corneal Ulcer; Epithelium; Female; Humans; Infant, New | 1981 |
Occurrence of hyperammonemia in the course of 17 cases of methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Chromatography, Gas; Humans; Malonates; Methylmalonic | 1981 |
[A case of metabolic encephalopathy caused by vitamin B 12-dependent methylmalonicaciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Female; Humans; Infant; Malonates; Methylmalon | 1981 |
Measurement of methylmalonic acid in urine filter paper specimens by gas chromatography.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Humans; Infant; Infant, Newborn; Malonate | 1981 |
Propionate metabolism by cultured skin fibroblasts from normal individuals and patients with methylmalonicaciduria and propionicacidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Fatty Acids, Nonesterified; Fibroblasts; Huma | 1981 |
Improved prenatal diagnosis of methylmalonic acidemia: mass fragmentography of methylmalonic acid in amniotic fluid and maternal urine.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Humans; Malonates; Methylmaloni | 1981 |
Long-term management of a patient with vitamin B12-responsive methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatinine; Dietary Proteins; Follow- | 1980 |
[Methylmalonacidemia].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Infant, Newborn; Malonates; Methylmalonic Acid | 1980 |
Metabolic persistence of fetal hemoglobin.
Topics: Acyl-CoA Dehydrogenase; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Base Sequence; Carboxy | 1995 |
Long-term follow-up of 77 patients with isolated methylmalonic acidaemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cobamides; Creatin | 1995 |
Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; Child; Child, Preschool; Developmental Disabilities | 1993 |
Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Binding Sites; Cell Line; | 1994 |
Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.
Topics: Amino Acid Metabolism, Inborn Errors; Chromosome Aberrations; Chromosomes, Human, Pair 6; Diabetes M | 1994 |
Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe.
Topics: Amino Acid Metabolism, Inborn Errors; Europe; Haplotypes; Humans; Methylmalonic Acid; Methylmalonyl- | 1994 |
Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Dermatitis; Edema; Erythema; Humans; Infant; | 1994 |
Acrodermatitis-like syndrome in organic aciduria.
Topics: Acrodermatitis; Amino Acid Metabolism, Inborn Errors; Amino Acids; Humans; Infant; Male; Methylmalon | 1994 |
Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria.
Topics: Acrodermatitis; Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Infant, Newborn; Isole | 1994 |
Methylmalonic aciduria with pathological fracture.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Femoral Fractures; Fractures, Spontaneous; Humans; Inf | 1993 |
Contribution of odd-numbered fatty acid oxidation to propionate production in neonates with methylmalonic and propionic acidaemias.
Topics: Acyl Coenzyme A; Adipose Tissue; Amino Acid Metabolism, Inborn Errors; Fatty Acids; Humans; Infant, | 1993 |
Liposomal amphotericin-B (AmBisome) for treatment of cutaneous widespread candidosis in an infant with methylmalonic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amphotericin B; Candidiasis, Cutaneous; Humans; Infant; Infusi | 1993 |
A case of fulminant ecthyma gangrenosum associated with Pseudomonas aeruginosa infection in a patient with methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ecthyma; Fatal Outcome; Humans; Infant; Japan; Male; Methylmal | 1994 |
[Methylmalonic acidemia with bilateral MRI high intensities of the globus pallidus].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Dystonia; Female; Globus Pallidus; Humans; Levodopa; Ma | 1993 |
Pancreatitis in patients with organic acidemias.
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chronic Disease; Femal | 1994 |
Renal handling of carnitine in secondary carnitine deficiency disorders.
Topics: Acyl Coenzyme A; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Amin | 1993 |
Tubulointerstitial nephritis in methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Kidney Cortex; Male; Methylmalonic Acid; Nephr | 1993 |
Methylmalonic acidemia with a severe chemical but benign clinical phenotype.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Genotype; Humans; Male; Methylmalonic Acid; | 1993 |
Selective death of immature neurons in methylmalonic acidemia of the neonate: a case report.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Cell Death; Female; Humans; Immunoenzyme Techniques; In | 1993 |
Quantification of carnitine and specific acylcarnitines by high-performance liquid chromatography: application to normal human urine and urine from patients with methylmalonic aciduria, isovaleric acidemia or medium-chain acyl-CoA dehydrogenase deficiency
Topics: Acetophenones; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Amino Acid Metabolism, Inborn Errors | 1993 |
[Use of metronidazole in four cases of methyl-malonic acidemia].
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Infant, Newborn; Male; Methylmalonic A | 1993 |
Use of human somatotrophin in the treatment of a patient with methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Body Height; Child; Female; Follow-Up Studies; Growth Hormone; | 1995 |
On the differences between urinary metabolite excretion and odd-numbered fatty acid production in propionic and methylmalonic acidaemias.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Erythrocytes; Fatty Acids; Female; Hu | 1995 |
Methylmalonic acid quantification by stable isotope dilution gas chromatography-mass spectrometry from filter paper urine samples.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Deuterium; Gas Chr | 1996 |
Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Child; Child, Preschool; Disease Progression; | 1996 |
Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate.
Topics: Acidosis, Lactic; Acute Disease; Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Child; Glutath | 1996 |
Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Binding Sites; Cobamides; Computer Simula | 1996 |
A case of familial "benign' methylmalonic aciduria?
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Intellectual Disabil | 1996 |
Erythroblastopenia associated with methylmalonic aciduria. Case report and in vitro studies.
Topics: Amino Acid Metabolism, Inborn Errors; Anemia; Blood; Cells, Cultured; Erythroblasts; Erythroid Precu | 1996 |
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).
Topics: Adolescent; Age of Onset; Amino Acid Metabolism, Inborn Errors; Cause of Death; Child; Child, Presch | 1997 |
Effective immunoglobulin therapy for brief tonic seizures in methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Electroencephalography; Epilepsy, Tonic-Clonic; Humans; | 1997 |
Inborn errors of metabolism with a protein-restricted diet: effect on polyunsaturated fatty acids.
Topics: alpha-Linolenic Acid; Amino Acid Metabolism, Inborn Errors; Arachidonic Acid; Child; Child, Preschoo | 1997 |
A common mutation among blacks with mut- methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Substitution; Black People; Cells, Cultured; DNA; D | 1998 |
Seven novel mutations in mut methylmalonic aciduria.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; Cell Line; Chromosomes, Human, Pair 6; | 1998 |
Combined liver-kidney transplantation in methylmalonic acidemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Genes, Recessive; Humans; Kidney Failure, Chronic; | 1998 |
Picture of the month. Cutaneous lesions associated with isoleucine deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Exanthema; Humans; Infant; Isoleucine; Male; Methylmalonic Aci | 1998 |
Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies.
Topics: Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Child; Diet; Fibroblasts; Humans; Male; Malona | 1998 |
Alteration of mitochondrial DNA and RNA level in human fibroblasts with impaired vitamin B12 coenzyme synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; Cell Respiration; Cobamides; DNA, Mitochondrial; El | 1998 |
Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation.
Topics: Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Developmental Disabilities; Humans; | 1998 |
Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Cells, Cultured; Chorion; Chori | 1998 |
Renal transplantation in a patient with methylmalonic acidaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Humans; Kidney Failure, Chronic; Kidney Transpl | 1998 |
Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Substitution; Base Sequence; C | 1999 |
Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Fibroblasts; Follo | 1999 |
Resting energy expenditure in disorders of propionate metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Body Constitution; Calorimetry, Indirect; Child; Energy Metabo | 2000 |
Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.
Topics: Amino Acid Metabolism, Inborn Errors; DNA; DNA Mutational Analysis; Fatal Outcome; Genotype; Humans; | 2001 |
Plasma amino acid and urine organic acid analyses of methylmalonic acidemia in a Thai infant.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Carboxylic Acids; Female; Humans; Infant; Methylm | 1999 |
Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Vessel Prosthesis Implantation; Female; Heart Septal Def | 2001 |
Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Specimen Collection; Carnitine; False Positive Reactions | 2001 |
Cobalamins in fibroblasts cultured from normal control subjects and patients with methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Chromatography; Fibroblasts; Humans; Malonate | 1976 |
Methylmalonic aciduria without vitamin B12 deficiency in an adult sibship.
Topics: Age Factors; Aged; Amino Acid Metabolism, Inborn Errors; Humans; Isomerases; Leukocytes; Male; Malon | 1976 |
Studies of methylmalonyl-coenzyme A carbonylmutase activity in methylmalonic acidemia. II. In vitro binding kinetics with adenosylcobalamin.
Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; Cobamides; Female; Humans; Infant, Newborn; Isomera | 1976 |
Congenital methylmalonic acidemia: a variant of the B12 'non-responsive' form with evidence for reduced affinity of methylmalonyl-CoA mutase for its B12-coenzyme.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Fibroblasts; Genetic Variation; Humans; Infant, Newbor | 1976 |
Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Heterozygote; Humans; Infant; Isomerases; Leukocytes; | 1977 |
A new variant of methylmalonic acidemia-defective coenzyme-apoenzyme binding in cultured fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Coenzymes; Female; Fibroblasts; Humans; Infan | 1978 |
[Methylmalonic acidemia. Diagnosis and treatment in various patients].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Infant, Newborn; Intellectua | 1978 |
Methylmalonic acidemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Glycine; Humans; Hypoglycemia; Infa | 1978 |
Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Humans; Hydroxy Acids; Infant, Newborn; I | 1978 |
Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Child, Preschool; Female; Humans; Infant | 1979 |
Inborn errors of cobalamin metabolism: effect of cobalamin supplementation in culture on methylmalonyl CoA mutase activity in normal and mutant human fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; Culture Media; Genetic Variation; Humans; Isomerase | 1979 |
Methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Apoenzymes; Cobamides; Dietary Proteins; Humans; Infant; Male; | 1979 |
Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Chromatography, Gas; Female; Human | 1978 |
[Emergency treatment of inborn amino errors of amino acid metabolism detected in the neonatal period].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Diuretics, Osmotic; Emergencies; Enteral Nutrition; E | 1979 |
Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Cobamides; Female; Fetal Diseases; Gestational | 1975 |
Acute neonatal nonketotic hyperglycinemia: normal propionate and methylmalonate metabolism.
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Coenzyme A; Female; Fi | 1975 |
Hereditary hyperammonaemic syndromes--a six year experience.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Female; Humans; Infan | 1979 |
A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Breast Feeding; Diagnosis, Diffe | 1978 |
[Methylmalonic aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Malo | 1978 |
Methylmalonic aciduria and hypoglycemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cobamides; Humans; Hypoglycemia; Male | 1976 |
Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Cells, Cultured; Fibroblasts; Humans; Infant, N | 1976 |
Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Cell Fractionation; Cell Line; Cobamides; Darkness; Dithiothre | 1975 |
Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Cell Fusion; Cells, Cultured; Fibroblasts; Genes; Genetic Comp | 1975 |
[13C]Valine metabolism in methylmalonicacidemia using nuclear magnetic resonance: propinonate as an obligate intermediate.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Coenzyme A; Humans; Magnetic Resonance Spectroscopy; Ma | 1975 |
Editorial: Prenatal treatment of methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Female; Fetal Diseases; Humans; Infant, Newborn | 1975 |
Cobalamin deficiency associated with methylmalonic acidemia in a cat.
Topics: Absorption; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Cat Diseases; Cats; Dietary | 1992 |
Asymptomatic lesions of the basal ganglia in a patient with methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Basal Ganglia Diseases; Humans; Infant, Newborn; Magnetic Reso | 1992 |
Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Diagnostic Errors; Ethylene Gly | 1992 |
Inborn errors of propionate metabolism: methylmalonic and propionic acidaemias.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Keto Acids; Methylmalonic Acid; Propi | 1992 |
Immunodeficiency in methylmalonic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Gas; Chromatography, High Pressur | 1992 |
Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; Diagnosis, Differential; Fibroblasts; Genetic Compl | 1991 |
Carnitine therapy and metabolism in the disorders of propionyl-CoA metabolism studied using 1H-NMR spectroscopy.
Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Female; Gas Chro | 1991 |
Accumulation of odd-numbered long-chain fatty acids in fetuses and neonates with inherited disorders of propionate metabolism.
Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Fatty Acids; Female; Fetus; Humans; Infant, N | 1991 |
Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Infant; Ketosis; Male; Methyl | 1991 |
Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biotin; Carbon Dioxide; Carboxy-Lyases; Carnitine; | 1991 |
1H-NMR studies of urine in propionic acidemia and methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Infant, Newborn; Magnetic Resonance Sp | 1991 |
Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Blotting, Northern; Cell Line; DNA, Recombinant; Huma | 1990 |
Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Cell Line; Cloning, Molecular; DNA; Exons; Gene | 1990 |
Parenteral nutrition in propionic acidemia and methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Malonates; Methylmalonic Acid; Parenteral Nutrition, T | 1990 |
Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Body Weight; Child, Pres | 1990 |
Disseminated mucormycosis in an infant with methylmalonicaciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Debridement; Humans; Infant, Newborn; Male; Methylmalonic Acid | 1990 |
Carnitine deficiency in inherited organic acid disorders and Reye syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Humans; Infant; Male; Metabolism, | 1990 |
Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Cobamides; Humans; Malonates; Methylmalonic Acid | 1990 |
Increased urinary metabolite excretion during fasting in disorders of propionate metabolism.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Citrates; Fasting; Fatty Acids | 1990 |
Antibiotic therapy for improvement of metabolic control in methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Fatty Acids; Humans; Lincomycin; Male; Malonates; Methy | 1990 |
Behavior management of feeding disturbances in urea cycle and organic acid disorders.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Anorexia; Argininosuccinic Acid; Behavior Therapy; Chil | 1987 |
Parenteral nutrition in propionic and methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Infant, Newborn; Male; Malonates; Me | 1989 |
Prenatal diagnosis of propionic and methylmalonic acidaemia by stable isotope dilution analysis of amniotic fluid.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Citrates; Female; Gas Chromatography-Mass Spect | 1989 |
Contribution of aminoacid catabolism to propionate production in methylmalonic acidaemia.
Topics: Acyl Coenzyme A; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Humans; Isoleucine | 1989 |
Focal changes in the globi pallidi associated with neurological dysfunction in methylmalonic acidaemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Female; Globus Pallidus; Humans; Infant; Male; Mal | 1989 |
[Studies on the beneficial effect of levocarnitine chloride (LC-80) on organic acidemias, especially propionic acidemia and methylmalonic acidemia].
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Carnitine; Drug Evaluation, Preclinical; Isomerism; M | 1989 |
A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Metabolism, Inborn Errors; Ane | 1986 |
Treatment of hydroxocobalamin-resistant methylmalonic acidaemia with adenosylcobalamin.
Topics: Amino Acid Metabolism, Inborn Errors; Cobamides; Drug Resistance; Female; Humans; Hydroxocobalamin; | 1986 |
[Carnitine in the treatment of methylmalonic aciduria (MMA)].
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Female; Humans; Infant; Ma | 1986 |
Biochemical analysis of intact fibroblasts from two cases with methylmalonic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Fibroblasts; Humans; Infant; Infant, Newborn; Malonate | 1985 |
First trimester diagnosis of methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Chorionic Villi; Female; Humans; Malonates; Methylmalonic Acid | 1988 |
[Methylmalonic acidemia].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Malonates; Methylmalonic Acid; Methylmalonyl-CoA Mutas | 1988 |
Use of proton nuclear magnetic resonance spectroscopy in detection and study of organic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Carboxylic Acids; Child, Preschool; Glutarates; Hemiterpenes; | 1985 |
Amniotic fluid propionylcarnitine in methylmalonic aciduria.
Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Carnitine; Chromatography, Hi | 1987 |
Odd-numbered long-chain fatty acid contents in erythrocyte membrane phospholipids in patients with an impaired propionate utilization.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Erythrocyte Membrane; Fatty Acids; Humans; | 1988 |
Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Atrophy; Basal Ganglia Diseases; Brain Diseases, M | 1988 |
Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Betaine; Carnitine; Child, Preschool; Fe | 1988 |
Methylcitric acid determination in amniotic fluid by electron-impact mass fragmentography.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Citrates; Female; Gas Chromatography-Mass Spec | 1988 |
Methylmalonic aciduria (1 case report).
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Male; Malonates; Methylmalonic Acid | 1987 |
Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy.
Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Creatine; Female; Gas Chromatography-Mass Spectrometr | 1986 |
An evaluation of protein requirements in methylmalonic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Dietary Proteins; Female; Growth; Humans; Infant; | 1985 |
Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Child, Preschool; Diagnosis, Differential; Fe | 1986 |
Studies on requirements for amino acids in infants with disorders of amino acid metabolism. I. Effect of alanine.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Dietary Proteins; Energy Intake; Female; | 1985 |
Use of a diode array detector in investigation of neonatal organic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Carboxylic Acids; Chromatography, Ion Exchange; Electrochemist | 1985 |
[Diagnosis of hereditary metabolic disorders in newborn and young infants].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Carbamoyl-Phosphate Synthase (Ammonia); Carbohydrate | 1985 |
Methylmalonic acidemia treated by continuous peritoneal dialysis.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Male; Malonates; Methylmalonic Acid; | 1985 |
Proximal renal tubular acidosis in methylmalonic acidemia.
Topics: Acidosis, Renal Tubular; Amino Acid Metabolism, Inborn Errors; Bicarbonates; Child, Preschool; Femal | 1985 |
Alanine decreases the protein requirements of infants with inborn errors of amino acid metabolism.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Weight; Dietary Proteins; Female; H | 1985 |
[Hereditary amino acid metabolism disorders. Indications for early diagnosis].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine; | 1972 |
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Labora | 1972 |