methylmalonic acid has been researched along with Inborn Errors of Metabolism in 227 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 |
|---|---|---|
| "Combined methylmalonic aciduria and homocystinuria (MMA-HC) is a rare metabolic disease characterized by an inborn defect in B12 vitamin metabolism." | 8.86 | Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report. ( D'Alessandro, G; Piana, G; Tagariello, T, 2010) |
| "The association of moderate hyperhomocysteinemia (HHcy) (15-30 μmol/L) with cardiovascular diseases (CVD) has been challenged by the lack of benefit of vitamin supplementation to lowering homocysteine." | 8.02 | Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients. ( Guéant, JL; Jeannesson, E; Levy, J; Oussalah, A; Rodriguez-Guéant, RM; Wahl, D; Ziuly, S, 2021) |
| "Combined methylmalonic aciduria and homocystinuria, cobalamin (cbl)C type (cblC disease), the most common inborn error of vitamin B(12), is a rare disorder of intracellular cbl metabolism because of mutations in the MMACHC gene located in chromosome region 1p34." | 7.77 | Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene. ( Chang, JT; Chen, YY; Chiu, PC; Liu, MY; Liu, TT, 2011) |
| "Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) metabolism caused by mutations in MMACHC." | 7.76 | Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. ( Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C, 2010) |
| "Patients with the cblC vitamin B(12) (cobalamin, cbl) disorder are defective in the intracellular synthesis of adenosylcobalamin and methylcobalamin and have combined homocystinuria and methylmalonic aciduria." | 7.75 | Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. ( Froese, DS; Gravel, RA; Healy, S; Zhang, J, 2009) |
| "To characterize the frequency and nature of cardiovascular defects in patients with CblC-type methylmalonic aciduria and homocystinuria (cblC), an inborn error of cobalamin (vitamin B12) metabolism resulting in accumulation of methylmalonic acid and homocysteine." | 7.75 | High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. ( Diaz, GA; Kirmse, B; Profitlich, LE; Srivastava, S; Wasserstein, MP, 2009) |
| "To assess and compare longitudinal visual function and retinal morphology in patients with methylmalonic aciduria with homocystinuria, cobalamin C type (cblC), and identified mutations in the MMACHC gene." | 7.74 | Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. ( Feigenbaum, A; Gerth, C; Levin, AV; Morel, CF, 2008) |
| "We report on the case of a 36-year-old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC)." | 7.74 | Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. ( Lerner-Ellis, JP; Morel, CF; Rosenblatt, DS; Scharer, G; Thomas, JA; Tsai, AC; Yang, M, 2007) |
| " Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria." | 7.74 | Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). ( Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ, 2007) |
| "Cobalamin C methylmalonic aciduria with homocystinuria (cblC disease) is a rare hereditary inborn error of cobalamin metabolism, characterised by neurological, haematological and ophthalmological abnormalities." | 7.74 | Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders. ( Borruat, FX; Gaillard, MC; Matthieu, JM, 2008) |
| "Methylmalonic aciduria and homocystinuria, cblC type (MIM 277400), is the most frequent inborn error of vitamin B12 (cobalamin, Cbl) metabolism, caused by an inability of the cell to convert Cbl to both of its active forms (MeCbl, AdoCbl)." | 7.73 | Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. ( Lerner-Ellis, JP; Morel, CF; Rosenblatt, DS, 2006) |
| "Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common inborn error of vitamin B(12) (cobalamin) metabolism, with about 250 known cases." | 7.73 | Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. ( Antonicka, H; Atkinson, JL; Coulton, JW; Dobson, CM; Doré, C; Dunbar, GV; Forgetta, V; Fujiwara, TM; Gravel, RA; Hosack, AR; Leclerc, D; Lepage, P; Lerner-Ellis, JP; Moras, E; Morel, CF; Morgan, K; Pawelek, PD; Rommens, JM; Rosenblatt, DS; Shoubridge, EA; Tirone, JC; Watkins, D, 2006) |
| "We report on a favourable pregnancy in a woman affected by mut- methylmalonic acidaemia." | 7.71 | Successful pregnancy in a woman with mut- methylmalonic acidaemia. ( Baiocco, F; Boenzi, S; Deodato, F; Dionisi-Vici, C; Rizzo, C; Sabetta, G, 2002) |
| "To compare the therapeutic effectiveness of hydroxocobalamin and cyanocobalamin in patients with combined methylmalonic acidemia and homocystinuria." | 7.70 | Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC). ( Andersson, HC; Shapira, E, 1998) |
| "We performed serial electroencephalograms (EEG) in a newborn with methylmalonic aciduria and homocystinuria to assess the effects of hydroxycobalamin (OHcbl) therapy on the CNS." | 7.70 | EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria. ( Bagnoli, F; Bellieni, CV; Buonocore, G; Cioni, M; De Felice, C; Farnetani, M; Ferrari, F; Gatti, MG, 2000) |
| "Methylmalonic acidaemia is an inborn error of metabolism characterized by recurrent episodes of life-threatening ketoacidosis." | 7.70 | Successful pregnancy in severe methylmalonic acidaemia. ( Desnick, RJ; Eddleman, K; Gaddipati, S; Sansaricq, C; Snyderman, SE; Wasserstein, MP, 1999) |
| "A patient with infantile onset methylmalonic aciduria and homocystinuria (Cbl-C mutant) is described." | 7.68 | Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient. ( Baumgartner, R; Briones, P; Campistol, J; Lluch, M; Maya, A; Pascual, P; Ribes, A; Rodes, M; Suormala, T; Vilaseca, MA, 1990) |
| "We report on a female neonate with diabetes mellitus and methylmalonic acidaemia, who died at age 16 days." | 7.68 | Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia. ( Baumgartner, R; Blum, D; De Prez, C; Dorchy, H; Fowler, B; Heimann, P; Kumps, A; Mardens, Y; Mouraux, T; Vamos, E, 1993) |
| "We describe a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the Cbl-C type mutant (McKusick 277400)." | 7.68 | Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria. ( Bellini, C; Bonacci, W; Caruso, U; Cerone, R; Fowler, B; Magliano, CP; Romano, C; Serra, G, 1992) |
| "In a pregnant woman, who had given birth to a child with methylmalonic acidaemia previously, urinary methylmalonate was measured at various intervals in the second half of the pregnancy." | 7.66 | Methylmalonate excretion in a pregnancy at risk for methylmalonic acidaemia. ( Bakker, HD; Duran, M; van Gennip, AH; Wadman, SK, 1978) |
| "A 7-week-old infant with methylmalonic acidemia had pancytopenia and hypoplastic bone marrow." | 7.66 | Inhibition of bone marrow stem cell growth in vitro by methylmalonic acid: a mechanism for pancytopenia in a patient with methylmalonic acidemia. ( Fracassa, M; Inoue, S; Krieger, I; Ottenbreit, MJ; Ravindranath, Y; Sarnaik, A, 1981) |
| ") with the cobalamin D variant of congenital methylmalonic aciduria-homocystinuria, whose previously reported lack of megaloblastic anemia conflicted with current concepts of cobalamin's role in DNA synthesis and the "methyltetrahydrofolate (MTHF) trap" hypothesis." | 7.66 | Abnormal deoxyuridine suppression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: divergent biochemical and morphological bone marrow manifestations of disordered cobalamin metabolism in man. ( Carmel, R; Goodman, SI, 1982) |
| "Biochemical investigations are reported in an infant with methylmalonic aciduria and homocystinuria who died at 4 months of age." | 7.66 | Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations. ( Bachmann, C; Baumgartner, ER; Gaull, GE; Linnell, JC; Steinmann, B; Wick, H, 1979) |
| "Methylmalonic aciduria is a rare metabolic disorder of amino acid metabolism that is characterized by accumulation of large amounts of methylmalonic acid in the blood and urine." | 5.29 | Methylmalonic aciduria in pregnancy: a case report. ( Diss, E; Iams, J; Reed, N; Roe, C; Roe, DS, 1995) |
| "Combined methylmalonic aciduria and homocystinuria (MMA-HC) is a rare metabolic disease characterized by an inborn defect in B12 vitamin metabolism." | 4.86 | Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report. ( D'Alessandro, G; Piana, G; Tagariello, T, 2010) |
| "The association of moderate hyperhomocysteinemia (HHcy) (15-30 μmol/L) with cardiovascular diseases (CVD) has been challenged by the lack of benefit of vitamin supplementation to lowering homocysteine." | 4.02 | Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients. ( Guéant, JL; Jeannesson, E; Levy, J; Oussalah, A; Rodriguez-Guéant, RM; Wahl, D; Ziuly, S, 2021) |
| "Methylmalonic aciduria (MMA-uria) is seen in several inborn errors of metabolism (IEM) affecting intracellular cobalamin pathways." | 3.91 | ( Andréasson, M; Svenningsson, P; von Döbeln, U; Wedell, A; Zetterström, RH, 2019) |
| "Combined methylmalonic aciduria and homocystinuria, cobalamin (cbl)C type (cblC disease), the most common inborn error of vitamin B(12), is a rare disorder of intracellular cbl metabolism because of mutations in the MMACHC gene located in chromosome region 1p34." | 3.77 | Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene. ( Chang, JT; Chen, YY; Chiu, PC; Liu, MY; Liu, TT, 2011) |
| "Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) metabolism caused by mutations in MMACHC." | 3.76 | Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. ( Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C, 2010) |
| "To characterize the frequency and nature of cardiovascular defects in patients with CblC-type methylmalonic aciduria and homocystinuria (cblC), an inborn error of cobalamin (vitamin B12) metabolism resulting in accumulation of methylmalonic acid and homocysteine." | 3.75 | High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. ( Diaz, GA; Kirmse, B; Profitlich, LE; Srivastava, S; Wasserstein, MP, 2009) |
| "Patients with the cblC vitamin B(12) (cobalamin, cbl) disorder are defective in the intracellular synthesis of adenosylcobalamin and methylcobalamin and have combined homocystinuria and methylmalonic aciduria." | 3.75 | Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. ( Froese, DS; Gravel, RA; Healy, S; Zhang, J, 2009) |
| " Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria." | 3.74 | Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). ( Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ, 2007) |
| "We report on the case of a 36-year-old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC)." | 3.74 | Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. ( Lerner-Ellis, JP; Morel, CF; Rosenblatt, DS; Scharer, G; Thomas, JA; Tsai, AC; Yang, M, 2007) |
| "Cobalamin C methylmalonic aciduria with homocystinuria (cblC disease) is a rare hereditary inborn error of cobalamin metabolism, characterised by neurological, haematological and ophthalmological abnormalities." | 3.74 | Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders. ( Borruat, FX; Gaillard, MC; Matthieu, JM, 2008) |
| "To assess and compare longitudinal visual function and retinal morphology in patients with methylmalonic aciduria with homocystinuria, cobalamin C type (cblC), and identified mutations in the MMACHC gene." | 3.74 | Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. ( Feigenbaum, A; Gerth, C; Levin, AV; Morel, CF, 2008) |
| "2, and a candidate gene, designated MMADHC (methylmalonic aciduria, cblD type, and homocystinuria), was identified in this region." | 3.74 | Gene identification for the cblD defect of vitamin B12 metabolism. ( Baumgartner, MR; Coelho, D; Fowler, B; Lerner-Ellis, JP; Newbold, RF; Rosenblatt, DS; Stucki, M; Suormala, T, 2008) |
| "Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common inborn error of vitamin B(12) (cobalamin) metabolism, with about 250 known cases." | 3.73 | Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. ( Antonicka, H; Atkinson, JL; Coulton, JW; Dobson, CM; Doré, C; Dunbar, GV; Forgetta, V; Fujiwara, TM; Gravel, RA; Hosack, AR; Leclerc, D; Lepage, P; Lerner-Ellis, JP; Moras, E; Morel, CF; Morgan, K; Pawelek, PD; Rommens, JM; Rosenblatt, DS; Shoubridge, EA; Tirone, JC; Watkins, D, 2006) |
| " When the present method was applied to infant urine specimens from normal controls and patients with inherited metabolic diseases such as phenylketonuria, maple syrup urine disease, methylmalonic aciduria or isovaleric aciduria, each I pattern of bar graph more distinctly displayed quantitative abundances of urinary AAs and CAs in qualitative I scale, thus allowing graphic discrimination between normal and abnormal states." | 3.73 | Simultaneous retention index analysis of urinary amino acids and carboxylic acids for graphic recognition of abnormal state. ( Kim, KR; Lee, HJ; Paik, MJ, 2005) |
| " Seven inborn errors of metabolism-- phenylketonuria (PKU), glutaric acidemia type I (GA-I), 3-methylcrotonylglycinemia deficiency (3-MCCD), methylmalonic acidemia (MMA), propionic acidemia (PA), medium-chain acylCoAdehydrogenase deficiency (MCADD), and 3-OH long-chain acyl CoA dehydrogenase deficiency (LCHADD)-were investigated." | 3.73 | Biomarker discovery, disease classification, and similarity query processing on high-throughput MS/MS data of inborn errors of metabolism. ( Baumgartner, C; Baumgartner, D, 2006) |
| "Methylmalonic aciduria and homocystinuria, cblC type (MIM 277400), is the most frequent inborn error of vitamin B12 (cobalamin, Cbl) metabolism, caused by an inability of the cell to convert Cbl to both of its active forms (MeCbl, AdoCbl)." | 3.73 | Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. ( Lerner-Ellis, JP; Morel, CF; Rosenblatt, DS, 2006) |
| "0%) were diagnosed as organic acidemias among the 1000 patients, including 20 methylmalonic acidemia, 6 propionic acidemia, 3 isovaleric acidemia, 3 glutaric acidemia type I, 3 glutaric acidemia type II, 2 biotinidas deficiency, 1 3-methylcrotonyl-CoA carboxylase deficiency, 1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, and 1 beta-keto thiolase deficiency." | 3.73 | [Application of tandem mass spectrometry in diagnosis of organic acidemias]. ( Gao, XL; Gu, XF; Han, LS; Qiu, WJ; Ye, J, 2005) |
| "Cobalamin C disease is a rare genetic condition resulting in methylmalonic aciduria, homocystinuria, and hematologic abnormalities." | 3.73 | Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis. ( Coates, T; Gonzalez-Gomez, I; Wu, S; Yano, S, 2005) |
| " The laboratory findings showed metabolic acidosis in 6 cases, hyperammonemia in 5 cases, ketonuria in 4 cases and remarkable elevation of urinary methylmalonic acid concentration in all cases." | 3.72 | [Diagnosis and treatment of methylmalonic acidemia in 14 cases]. ( Fang, F; Guo, W; Jin, H; Jin, Z; Wu, HS; Xiao, J; Zhang, CH; Zhu, C; Zou, LP, 2004) |
| "We report on a favourable pregnancy in a woman affected by mut- methylmalonic acidaemia." | 3.71 | Successful pregnancy in a woman with mut- methylmalonic acidaemia. ( Baiocco, F; Boenzi, S; Deodato, F; Dionisi-Vici, C; Rizzo, C; Sabetta, G, 2002) |
| "An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD." | 3.71 | CblC/D defect combined with haemodynamically highly relevant VSD. ( Baumgartner, ER; Bosk, A; Fowler, B; Heinemann, MK; Sieverding, L; Tomaske, M; Trefz, FK, 2001) |
| "To compare the therapeutic effectiveness of hydroxocobalamin and cyanocobalamin in patients with combined methylmalonic acidemia and homocystinuria." | 3.70 | Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC). ( Andersson, HC; Shapira, E, 1998) |
| "We performed serial electroencephalograms (EEG) in a newborn with methylmalonic aciduria and homocystinuria to assess the effects of hydroxycobalamin (OHcbl) therapy on the CNS." | 3.70 | EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria. ( Bagnoli, F; Bellieni, CV; Buonocore, G; Cioni, M; De Felice, C; Farnetani, M; Ferrari, F; Gatti, MG, 2000) |
| "Methylmalonic acidaemia is an inborn error of metabolism characterized by recurrent episodes of life-threatening ketoacidosis." | 3.70 | Successful pregnancy in severe methylmalonic acidaemia. ( Desnick, RJ; Eddleman, K; Gaddipati, S; Sansaricq, C; Snyderman, SE; Wasserstein, MP, 1999) |
| "We report on a female neonate with diabetes mellitus and methylmalonic acidaemia, who died at age 16 days." | 3.68 | Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia. ( Baumgartner, R; Blum, D; De Prez, C; Dorchy, H; Fowler, B; Heimann, P; Kumps, A; Mardens, Y; Mouraux, T; Vamos, E, 1993) |
| "We describe a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the Cbl-C type mutant (McKusick 277400)." | 3.68 | Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria. ( Bellini, C; Bonacci, W; Caruso, U; Cerone, R; Fowler, B; Magliano, CP; Romano, C; Serra, G, 1992) |
| "We describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure." | 3.68 | Cobalamin C defect associated with hemolytic-uremic syndrome. ( Casella, JF; Geraghty, MT; Hayflick, SJ; Martin, LS; Perlman, EJ; Rosenblatt, DS; Valle, D, 1992) |
| "Low-dose continuous infusions of [2H5]phenylalanine, [1-13C]propionate, and [1-13C]leucine were used to quantitate phenylalanine hydroxylation in phenylketonuria (PKU, four subjects), propionate oxidation in methylmalonic acidaemia (MMA, four subjects), and propionic acidaemia (PA, four subjects) and leucine oxidation in maple syrup urine disease (MSUD, four subjects)." | 3.68 | In vivo enzyme activity in inborn errors of metabolism. ( Halliday, D; Leonard, JV; Thompson, GN; Walter, JH, 1990) |
| "A patient with infantile onset methylmalonic aciduria and homocystinuria (Cbl-C mutant) is described." | 3.68 | Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient. ( Baumgartner, R; Briones, P; Campistol, J; Lluch, M; Maya, A; Pascual, P; Ribes, A; Rodes, M; Suormala, T; Vilaseca, MA, 1990) |
| "The French experience in the long term follow-up of 105 cases of organic aciduria (45 maple syrup urine disease, 12 isovaleric acidaemia, 19 propionic acidaemia, 24 methylmalonic aciduria and some rare allied disorders) is reported." | 3.67 | Long term outcome of organic acidurias: survey of 105 French cases (1967-1983). ( Guibaud, P; Rousson, R, 1984) |
| "We review the outcome of patients with maple syrup urine disease (14 classical patients and three variants), biotinidase deficiency (two patients) and non-cofactor-responsive variants of methylmalonic acidaemia (eight patients), propionic acidaemia (eight patients) and isolated 3-methylcrotonyl CoA carboxylase deficiency (three patients)." | 3.67 | The management and long term outcome of organic acidaemias. ( Bartlett, K; Daish, P; Leonard, JV; Naughten, ER, 1984) |
| " 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) |
| "The tendency towards metabolic acidosis developing during simple infections lead to the detection of hyperglycinemia which was shown to be caused by the rare inborn error of metabolism, which was shown to be a methylmalonic acidemia, in identical twins." | 3.66 | [Vitamin-B12-dependent methylmalonic acidemia in twins]. ( Hansen, HG; Heuer, R; Karsten, J; Kneer, J; Wulff, UC, 1983) |
| ") with the cobalamin D variant of congenital methylmalonic aciduria-homocystinuria, whose previously reported lack of megaloblastic anemia conflicted with current concepts of cobalamin's role in DNA synthesis and the "methyltetrahydrofolate (MTHF) trap" hypothesis." | 3.66 | Abnormal deoxyuridine suppression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: divergent biochemical and morphological bone marrow manifestations of disordered cobalamin metabolism in man. ( Carmel, R; Goodman, SI, 1982) |
| "Biochemical investigations are reported in an infant with methylmalonic aciduria and homocystinuria who died at 4 months of age." | 3.66 | Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations. ( Bachmann, C; Baumgartner, ER; Gaull, GE; Linnell, JC; Steinmann, B; Wick, H, 1979) |
| " 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) |
| "In a pregnant woman, who had given birth to a child with methylmalonic acidaemia previously, urinary methylmalonate was measured at various intervals in the second half of the pregnancy." | 3.66 | Methylmalonate excretion in a pregnancy at risk for methylmalonic acidaemia. ( Bakker, HD; Duran, M; van Gennip, AH; Wadman, SK, 1978) |
| "A 7-week-old infant with methylmalonic acidemia had pancytopenia and hypoplastic bone marrow." | 3.66 | Inhibition of bone marrow stem cell growth in vitro by methylmalonic acid: a mechanism for pancytopenia in a patient with methylmalonic acidemia. ( Fracassa, M; Inoue, S; Krieger, I; Ottenbreit, MJ; Ravindranath, Y; Sarnaik, A, 1981) |
| "Investigation of a neonate presenting with a metabolic acidosis, vomiting and an apnoeic attack revealed abnormal urinary excretion of methylmalonic acid (MMA) associated with a low serum vitamin B12." | 3.65 | Neonatal acidosis associated with transient methylmalonicaciduria and vitamin B12 deficiency. ( Ireland, JT; Williams, AJ, 1977) |
| "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 acid was previously considered as major neurotoxin in methylmalonic acidurias." | 2.43 | Methylmalonic acid--an endogenous toxin? ( Kölker, S; Okun, JG, 2005) |
| "Malonic aciduria is an extremely rare inborn error of metabolism due to malonyl-CoA decarboxylase deficiency." | 1.62 | Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family. ( Abily-Donval, L; Bekri, S; Goldenberg, A; Marret, S; Salomons, GS; Snanoudj, S; Sudrié-Arnaud, B; Tebani, A; Torre, S, 2021) |
| "Infantile spasms (or West syndrome) occur occasionally in patients with branched-chain organic acidurias." | 1.36 | Management of West syndrome in a patient with methylmalonic aciduria. ( Bahi-Buisson, N; Benoist, JF; Boddaert, N; Campeau, PM; de Lonlay, P; Desguerre, I; Dulac, O; Plouin, P; Rabier, D; Touati, G; Valayannopoulos, V, 2010) |
| "Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway of CoQ(10) synthesis (MVA) or indirectly by inhibition of mitochondrial energy metabolism (MMA)." | 1.35 | Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. ( Baumgartner, ER; Haas, D; Hoffmann, GF; Hörster, F; Menke, T; Niklowitz, P; Okun, JG; Prasad, C; Rodenburg, RJ, 2009) |
| "Methylmalonic acidaemia (MMA) is a heterogeneous group of rare genetic metabolic disorders caused by defects related to intracellular cobalamin (vitamin B(12)) metabolism." | 1.34 | Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway. ( Alvarez-Barrientos, A; Desviat, LR; Pérez, B; Richard, E; Ugarte, M, 2007) |
| "The methylmalonic aciduria is an organic acidemia, inherited as autosomic recessive trait, caused by a deficiency of the methylmalonyl-CoA mutase, or by defects in the biosynthesis of the cofactor adenosylcobalamin." | 1.34 | [Diagnosis and treatment of methylmalonic aciduria: a case report]. ( Domínguez, CL; Mahfoud, A; Merinero, B; Pérez, A; Pérez, B; Rizzo, C, 2007) |
| "Renal tubular dysfunction and chronic renal failure are well recognised complications of methylmalonic acidaemia (MMA) and can occur even in the context of optimal medical metabolic management." | 1.33 | Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia. ( Burke, J; Coman, D; Huang, J; McGill, J; McTaggart, S; Ohura, T; Sakamoto, O, 2006) |
| "Progressive tubulointerstitial nephritis with disabling polyuria is a confounder in patient management even in the absence of end-stage renal disease." | 1.33 | Management of methylmalonic acidaemia by combined liver-kidney transplantation. ( Enns, GM; Millan, MT; Nagarajan, S; Sarwal, MM; Winter, S, 2005) |
| "Methylmalonic acidemia (MMA) was most common (74 cases), followed by propionic acidemia (23 cases), ornitine transcarbamylase deficiency (22 cases), and multiple carboxylase deficiency (15 cases)." | 1.33 | Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening. ( Hasegawa, Y; Hori, D; Kimura, M; Verma, IC; Yamaguchi, S; Yang, Y, 2005) |
| " The pathomechanisms involved are still unknown, a contribution of toxic organic acids, in particular MMA, has been suggested." | 1.31 | Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. ( Farkas, LM; Feyh, P; Hinz, A; Hoffmann, GF; Hörster, F; Kölker, S; Mayatepek, E; Okun, JG; Sauer, S; Unsicker, K, 2002) |
| " We have previously demonstrated that methylmalonic and propionic acids induce a significant reduction of ganglioside N-acetylneuraminic acid in the brain of rats subjected to chronic administration of these metabolites." | 1.31 | Ganglioside alterations in the central nervous system of rats chronically injected with methylmalonic and propionic acids. ( Brusque, AM; Pettenuzzo, LE; Raasch, JR; Rocha, HP; Trindade, VM; Wajne, M; Wannmacher, CM, 2002) |
| "Predominant clinical features include microcephaly, hydrocephalus, seizures, and white-matter changes on magnetic resonance imaging in early-onset cases." | 1.31 | Practical management of combined methylmalonicaciduria and homocystinuria. ( Bodamer, OA; Smith, DL, 2002) |
| "Both were found to have distal renal tubular acidosis (dRTA) with hypercalciuria." | 1.30 | Benign methylmalonic acidemia in a sibship with distal renal tubular acidosis. ( Allen, J; Dudley, J; McGraw, M; Tizard, J, 1998) |
| "Methylmalonic aciduria is a rare metabolic disorder of amino acid metabolism that is characterized by accumulation of large amounts of methylmalonic acid in the blood and urine." | 1.29 | Methylmalonic aciduria in pregnancy: a case report. ( Diss, E; Iams, J; Reed, N; Roe, C; Roe, DS, 1995) |
| "Creatine excretion was measured in two patients with methylmalonic aciduria and two patients with 3-hydroxy-3-methylglutaric aciduria." | 1.28 | Creatine metabolism during metabolic perturbations in patients with organic acidurias. ( Chalmers, RA; Davies, SE; Iles, RA; Stacey, TE, 1990) |
| "Methylmalonic acidemia is a heterogeneous inborn error of propionate metabolism." | 1.28 | Progressive renal insufficiency in methylmalonic acidemia. ( Friedman, AL; Molteni, KH; Oberley, TD; Wolff, JA, 1991) |
| "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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 52 (22.91) | 18.7374 |
| 1990's | 64 (28.19) | 18.2507 |
| 2000's | 75 (33.04) | 29.6817 |
| 2010's | 29 (12.78) | 24.3611 |
| 2020's | 7 (3.08) | 2.80 |
| Authors | Studies |
|---|---|
| Snanoudj, S | 1 |
| Torre, S | 1 |
| Sudrié-Arnaud, B | 1 |
| Abily-Donval, L | 1 |
| Goldenberg, A | 1 |
| Salomons, GS | 3 |
| Marret, S | 1 |
| Bekri, S | 1 |
| Tebani, A | 1 |
| Al-Dirbashi, OY | 1 |
| Alfadhel, M | 1 |
| Al-Thihli, K | 2 |
| Al Dhahouri, N | 1 |
| Langhans, CD | 1 |
| Al Hammadi, Z | 1 |
| Al-Shamsi, A | 1 |
| Hertecant, J | 1 |
| Okun, JG | 5 |
| Hoffmann, GF | 3 |
| Al-Jasmi, F | 1 |
| Tucci, S | 1 |
| Lee, SH | 1 |
| Ko, JM | 1 |
| Song, MK | 1 |
| Song, J | 1 |
| Park, KS | 1 |
| Hörster, F | 3 |
| Tuncel, AT | 1 |
| Gleich, F | 1 |
| Plessl, T | 1 |
| Froese, SD | 1 |
| Garbade, SF | 1 |
| Kölker, S | 4 |
| Baumgartner, MR | 2 |
| Gabriel, MC | 1 |
| Rice, SM | 1 |
| Sloan, JL | 2 |
| Mossayebi, MH | 1 |
| Venditti, CP | 4 |
| Al-Kouatly, HB | 1 |
| Levy, J | 1 |
| Rodriguez-Guéant, RM | 1 |
| Oussalah, A | 1 |
| Jeannesson, E | 1 |
| Wahl, D | 1 |
| Ziuly, S | 1 |
| Guéant, JL | 1 |
| Kasapkara, CS | 1 |
| Civelek Ürey, B | 1 |
| Ceylan, AC | 1 |
| Ünal Uzun, Ö | 1 |
| Çetin, II | 1 |
| Ambati, CS | 1 |
| Yuan, F | 1 |
| Abu-Elheiga, LA | 1 |
| Zhang, Y | 1 |
| Shetty, V | 1 |
| Levtova, A | 1 |
| Waters, PJ | 1 |
| Buhas, D | 1 |
| Lévesque, S | 1 |
| Auray-Blais, C | 1 |
| Clarke, JTR | 1 |
| Laframboise, R | 1 |
| Maranda, B | 1 |
| Mitchell, GA | 1 |
| Brunel-Guitton, C | 1 |
| Braverman, NE | 1 |
| Andréasson, M | 1 |
| Zetterström, RH | 1 |
| von Döbeln, U | 1 |
| Wedell, A | 1 |
| Svenningsson, P | 1 |
| Dalmia, A | 1 |
| Dib, MJ | 1 |
| Maude, H | 1 |
| Harrington, DJ | 1 |
| Sobczyńska-Malefora, A | 1 |
| Andrew, T | 1 |
| Ahmadi, KR | 1 |
| Polinati, PP | 1 |
| Valanne, L | 1 |
| Tyni, T | 1 |
| Baertling, F | 1 |
| Mayatepek, E | 2 |
| Thimm, E | 1 |
| Schlune, A | 1 |
| Kovacevic, A | 1 |
| Distelmaier, F | 1 |
| Meissner, T | 1 |
| Han, L | 2 |
| Wu, S | 2 |
| Ye, J | 4 |
| Qiu, W | 2 |
| Zhang, H | 2 |
| Gao, X | 1 |
| Wang, Y | 1 |
| Gong, Z | 1 |
| Jin, J | 1 |
| Gu, X | 2 |
| Colak, G | 1 |
| Pougovkina, O | 1 |
| Dai, L | 1 |
| Tan, M | 1 |
| Te Brinke, H | 1 |
| Huang, H | 1 |
| Cheng, Z | 1 |
| Park, J | 1 |
| Wan, X | 1 |
| Liu, X | 1 |
| Yue, WW | 1 |
| Wanders, RJ | 1 |
| Locasale, JW | 1 |
| Lombard, DB | 1 |
| de Boer, VC | 1 |
| Zhao, Y | 1 |
| Pupavac, M | 1 |
| Tian, X | 1 |
| Chu, J | 1 |
| Wang, G | 1 |
| Feng, Y | 1 |
| Chen, S | 1 |
| Fenter, R | 1 |
| Zhang, VW | 1 |
| Wang, J | 1 |
| Watkins, D | 8 |
| Wong, LJ | 1 |
| Rosenblatt, DS | 22 |
| Liu, H | 1 |
| Tan, D | 1 |
| Gerth, C | 1 |
| Morel, CF | 4 |
| Feigenbaum, A | 1 |
| Levin, AV | 1 |
| Lee, NC | 2 |
| Chien, YH | 3 |
| Peng, SF | 1 |
| Huang, AC | 1 |
| Liu, TT | 2 |
| Wu, AS | 1 |
| Chen, LC | 1 |
| Hsu, LW | 1 |
| Tseng, SC | 1 |
| Hwu, WL | 3 |
| Li, CJ | 1 |
| Liu, JH | 1 |
| Lin, HH | 1 |
| Wu, C | 1 |
| Dong, Y | 1 |
| Bassim, CW | 1 |
| Wright, JT | 1 |
| Guadagnini, JP | 1 |
| Muralidharan, R | 1 |
| Sloan, J | 1 |
| Domingo, DL | 1 |
| Hart, TC | 1 |
| Haas, D | 1 |
| Niklowitz, P | 1 |
| Baumgartner, ER | 7 |
| Prasad, C | 1 |
| Rodenburg, RJ | 1 |
| Menke, T | 1 |
| Chen, PW | 1 |
| Ho, MC | 2 |
| Ni, YH | 2 |
| Lee, PH | 2 |
| Froese, DS | 1 |
| Zhang, J | 1 |
| Healy, S | 1 |
| Gravel, RA | 6 |
| Campeau, PM | 1 |
| Valayannopoulos, V | 2 |
| Touati, G | 2 |
| Bahi-Buisson, N | 1 |
| Boddaert, N | 1 |
| Plouin, P | 1 |
| Rabier, D | 2 |
| Benoist, JF | 3 |
| Dulac, O | 1 |
| de Lonlay, P | 2 |
| Desguerre, I | 1 |
| Profitlich, LE | 1 |
| Kirmse, B | 1 |
| Wasserstein, MP | 3 |
| Diaz, GA | 2 |
| Srivastava, S | 1 |
| Weisfeld-Adams, JD | 1 |
| Morrissey, MA | 1 |
| Kirmse, BM | 1 |
| Salveson, BR | 1 |
| McGuire, PJ | 1 |
| Sunny, S | 1 |
| Cohen-Pfeffer, JL | 1 |
| Yu, C | 1 |
| Caggana, M | 1 |
| Padovani, D | 1 |
| Banerjee, R | 1 |
| Ross, LF | 1 |
| Sauer, SW | 1 |
| Opp, S | 1 |
| Mahringer, A | 1 |
| Kamiński, MM | 1 |
| Thiel, C | 1 |
| Fricker, G | 1 |
| Morath, MA | 1 |
| D'Alessandro, G | 1 |
| Tagariello, T | 1 |
| Piana, G | 1 |
| Shigematsu, Y | 2 |
| Hata, I | 1 |
| Tajima, G | 1 |
| Quadros, EV | 1 |
| Lai, SC | 1 |
| Nakayama, Y | 1 |
| Sequeira, JM | 1 |
| Hannibal, L | 1 |
| Wang, S | 1 |
| Jacobsen, DW | 1 |
| Fedosov, S | 1 |
| Wright, E | 1 |
| Gallagher, RC | 1 |
| Anastasio, N | 2 |
| Footitt, EJ | 1 |
| Stafford, J | 1 |
| Dixon, M | 1 |
| Burch, M | 1 |
| Jakobs, C | 3 |
| Cleary, MA | 1 |
| Miousse, IR | 1 |
| Alfares, A | 1 |
| Nunez, LD | 1 |
| Mitchell, J | 1 |
| Melançon, S | 1 |
| Ha, KC | 1 |
| Majewski, J | 1 |
| Braverman, N | 1 |
| Chang, JT | 1 |
| Chen, YY | 1 |
| Liu, MY | 1 |
| Chiu, PC | 1 |
| Johnston, JJ | 1 |
| Manoli, I | 1 |
| Chandler, RJ | 2 |
| Krause, C | 1 |
| Carrillo-Carrasco, N | 1 |
| Chandrasekaran, SD | 1 |
| Sysol, JR | 1 |
| O'Brien, K | 1 |
| Hauser, NS | 1 |
| Sapp, JC | 1 |
| Dorward, HM | 1 |
| Huizing, M | 1 |
| Barshop, BA | 2 |
| Berry, SA | 1 |
| James, PM | 1 |
| Champaigne, NL | 1 |
| Geschwind, MD | 1 |
| Gavrilov, DK | 1 |
| Nyhan, WL | 7 |
| Biesecker, LG | 1 |
| Xue, J | 1 |
| Peng, J | 1 |
| Zhou, M | 1 |
| Zhong, L | 1 |
| Yin, F | 1 |
| Liang, D | 1 |
| Wu, L | 1 |
| Prada, CE | 1 |
| Jefferies, JL | 1 |
| Grenier, MA | 1 |
| Huth, CM | 1 |
| Page, KI | 1 |
| Spicer, RL | 1 |
| Towbin, JA | 1 |
| Leslie, ND | 1 |
| Reindl, BA | 1 |
| Lynch, DW | 1 |
| Ramirez, M | 1 |
| Valbracht, M | 1 |
| Davis-Keppen, L | 1 |
| Tams, KC | 1 |
| Groeneveld, S | 1 |
| Celato, A | 1 |
| Mitola, C | 1 |
| Tolve, M | 1 |
| Giannini, MT | 1 |
| De Leo, S | 1 |
| Carducci, C | 2 |
| Leuzzi, V | 1 |
| Gargus, JJ | 1 |
| Boyle, K | 1 |
| Selby, R | 1 |
| Koch, R | 1 |
| Boneh, A | 1 |
| Greaves, RF | 1 |
| Garra, G | 1 |
| Pitt, JJ | 1 |
| Deodato, F | 2 |
| Rizzo, C | 2 |
| Boenzi, S | 2 |
| Baiocco, F | 1 |
| Sabetta, G | 1 |
| Dionisi-Vici, C | 2 |
| Shinka, T | 1 |
| Inoue, Y | 1 |
| Yoshino, M | 6 |
| Kakinuma, H | 2 |
| Takahashi, H | 2 |
| Kuhara, T | 1 |
| Smith, DL | 1 |
| Bodamer, OA | 1 |
| Peters, HL | 1 |
| Nefedov, M | 1 |
| Lee, LW | 1 |
| Abdenur, JE | 1 |
| Chamoles, NA | 2 |
| Kahler, SG | 1 |
| Ioannou, PA | 1 |
| Dobson, CM | 5 |
| Wai, T | 2 |
| Leclerc, D | 4 |
| Wilson, A | 1 |
| Wu, X | 2 |
| Doré, C | 3 |
| Hudson, T | 1 |
| Sasaki, M | 1 |
| Sakuragawa, N | 1 |
| Das, AM | 1 |
| García, A | 2 |
| Barbas, C | 2 |
| Walter, JH | 5 |
| Roze, E | 1 |
| Gervais, D | 1 |
| Demeret, S | 1 |
| Ogier de Baulny, H | 2 |
| Zittoun, J | 2 |
| Said, G | 1 |
| Pierrot-Deseilligny, C | 1 |
| Bolgert, F | 1 |
| Kobayashi, A | 1 |
| Francis, PJ | 1 |
| Calver, DM | 1 |
| Barnfield, P | 1 |
| Turner, C | 1 |
| Dalton, RN | 1 |
| Champion, MP | 1 |
| Jin, H | 1 |
| Zou, LP | 1 |
| Zhang, CH | 1 |
| Fang, F | 1 |
| Xiao, J | 1 |
| Wu, HS | 1 |
| Zhu, C | 1 |
| Guo, W | 1 |
| Jin, Z | 1 |
| Lerner-Ellis, JP | 6 |
| Tirone, JC | 3 |
| Lepage, P | 3 |
| Hori, D | 1 |
| Hasegawa, Y | 3 |
| Kimura, M | 2 |
| Yang, Y | 1 |
| Verma, IC | 1 |
| Yamaguchi, S | 3 |
| de Baulny, HO | 1 |
| Rigal, O | 1 |
| Saudubray, JM | 6 |
| Paik, MJ | 1 |
| Lee, HJ | 1 |
| Kim, KR | 1 |
| Nagarajan, S | 1 |
| Enns, GM | 2 |
| Millan, MT | 1 |
| Winter, S | 2 |
| Sarwal, MM | 1 |
| Iga, M | 1 |
| Han, LS | 1 |
| Gao, XL | 1 |
| Qiu, WJ | 1 |
| Gu, XF | 1 |
| Adeyemi, OA | 1 |
| Girish, T | 1 |
| Mukhopadhyay, S | 1 |
| Olczak, SA | 1 |
| Ahmed, Z | 1 |
| Loeffen, J | 1 |
| Smeets, R | 1 |
| Voit, T | 1 |
| Hoffmann, G | 1 |
| Smeitink, J | 1 |
| Chang, H | 1 |
| Østergaard, E | 1 |
| Wibrand, F | 1 |
| Ørngreen, MC | 1 |
| Vissing, J | 1 |
| Horn, N | 1 |
| Coman, D | 1 |
| Huang, J | 1 |
| McTaggart, S | 1 |
| Sakamoto, O | 1 |
| Ohura, T | 2 |
| McGill, J | 1 |
| Burke, J | 1 |
| Gonzalez-Gomez, I | 1 |
| Coates, T | 1 |
| Yano, S | 2 |
| Huang, HP | 2 |
| Huang, LM | 1 |
| Chang, MH | 1 |
| Pawelek, PD | 1 |
| Atkinson, JL | 1 |
| Fujiwara, TM | 1 |
| Moras, E | 1 |
| Hosack, AR | 1 |
| Dunbar, GV | 1 |
| Antonicka, H | 1 |
| Forgetta, V | 1 |
| Shoubridge, EA | 1 |
| Coulton, JW | 1 |
| Rommens, JM | 1 |
| Morgan, K | 1 |
| Baumgartner, C | 1 |
| Baumgartner, D | 1 |
| Gradinger, AB | 1 |
| Villeneuve, A | 1 |
| Montpetit, A | 1 |
| Aldámiz-Echevarría, L | 1 |
| Sanjurjo, P | 2 |
| Elorz, J | 1 |
| Prieto, JA | 1 |
| Pérez, C | 1 |
| Andrade, F | 1 |
| Rodríguez-Soriano, J | 1 |
| Santorelli, FM | 1 |
| Thiele, J | 1 |
| Van Raamsdonk, JM | 1 |
| Gradinger, A | 1 |
| Longo, N | 1 |
| Lerner-Ellis, J | 1 |
| Lemieux, M | 1 |
| Belair, C | 1 |
| Manzoni, D | 1 |
| Spotti, A | 1 |
| Carrara, B | 1 |
| Gritti, P | 1 |
| Sonzogni, V | 1 |
| Yuen, YP | 1 |
| Lai, CK | 1 |
| Chan, YW | 1 |
| Lam, CW | 1 |
| Tong, SF | 1 |
| Chan, KY | 1 |
| Kasahara, M | 2 |
| Horikawa, R | 2 |
| Tagawa, M | 1 |
| Uemoto, S | 1 |
| Yokoyama, S | 2 |
| Shibata, Y | 1 |
| Kawano, T | 1 |
| Kuroda, T | 1 |
| Honna, T | 1 |
| Tanaka, K | 2 |
| Saeki, M | 1 |
| Maeda, Y | 1 |
| Ito, T | 1 |
| Suzuki, A | 1 |
| Kurono, Y | 1 |
| Ueta, A | 1 |
| Yokoi, K | 1 |
| Sumi, S | 1 |
| Togari, H | 1 |
| Sugiyama, N | 2 |
| Kobayashi, H | 1 |
| Endo, M | 1 |
| Purevsuren, J | 1 |
| Mahfoud, A | 1 |
| Domínguez, CL | 1 |
| Pérez, A | 1 |
| Merinero, B | 2 |
| Pérez, B | 2 |
| Lai, YC | 1 |
| Tsai, IJ | 1 |
| Tsau, YK | 1 |
| Heil, SG | 1 |
| Hogeveen, M | 1 |
| Kluijtmans, LA | 1 |
| van Dijken, PJ | 1 |
| van de Berg, GB | 1 |
| Blom, HJ | 1 |
| Morava, E | 1 |
| Tsai, AC | 1 |
| Scharer, G | 1 |
| Yang, M | 1 |
| Thomas, JA | 1 |
| Morioka, D | 1 |
| Fukuda, A | 1 |
| Nakagawa, A | 1 |
| Richard, E | 1 |
| Alvarez-Barrientos, A | 1 |
| Desviat, LR | 1 |
| Ugarte, M | 2 |
| Fowler, B | 7 |
| Coelho, D | 1 |
| Suormala, T | 2 |
| Stucki, M | 1 |
| Newbold, RF | 1 |
| Gaillard, MC | 1 |
| Matthieu, JM | 1 |
| Borruat, FX | 1 |
| Davidson, JS | 1 |
| Lloyd, A | 1 |
| Christianson, A | 1 |
| Harley, EH | 1 |
| Berger, GM | 1 |
| Brown, GK | 1 |
| Scholem, RD | 1 |
| Bankier, A | 1 |
| Danks, DM | 2 |
| Bartlett, K | 2 |
| Rousson, R | 1 |
| Guibaud, P | 1 |
| Leonard, JV | 8 |
| Daish, P | 1 |
| Naughten, ER | 1 |
| Bachmann, C | 2 |
| Bühlmann, R | 1 |
| Colombo, JP | 1 |
| Dave, P | 1 |
| Curless, RG | 1 |
| Steinman, L | 1 |
| Dorland, L | 1 |
| Sweetman, L | 2 |
| Duran, M | 2 |
| Wadman, SK | 2 |
| Di Palma, L | 1 |
| Giliberti, P | 1 |
| Iannuzzi, S | 1 |
| Vetrella, A | 1 |
| Carcano, G | 1 |
| Luongo, G | 1 |
| De Marco, C | 1 |
| De Bellis, U | 1 |
| Rinaldo, P | 1 |
| Chiandetti, L | 1 |
| Zacchello, F | 1 |
| Daolio, S | 1 |
| Traldi, P | 1 |
| Di Donato, S | 1 |
| Rimoldi, M | 1 |
| Garavaglia, B | 1 |
| Uziel, G | 1 |
| Shinnar, S | 1 |
| Singer, HS | 1 |
| Krieger, IE | 1 |
| Nigro, M | 2 |
| Sarnaik, A | 2 |
| Taqi, Q | 2 |
| Karsten, J | 1 |
| Hansen, HG | 1 |
| Heuer, R | 1 |
| Wulff, UC | 1 |
| Kneer, J | 1 |
| Matthews, DM | 1 |
| Linnell, JC | 2 |
| Carmel, R | 1 |
| Goodman, SI | 1 |
| Krieger, I | 2 |
| del Valle, JA | 1 |
| Pérez-Cerdá, C | 1 |
| Fenton, WA | 3 |
| Rosenberg, LE | 4 |
| Coulombe, JT | 1 |
| Shih, VE | 1 |
| Levy, HL | 2 |
| Inoue, S | 1 |
| Ravindranath, Y | 1 |
| Fracassa, M | 1 |
| Ottenbreit, MJ | 1 |
| Cogan, DG | 1 |
| Schulman, J | 1 |
| Porter, RJ | 1 |
| Mudd, SH | 1 |
| Bandemer, R | 1 |
| Lubs, H | 1 |
| Soda, H | 2 |
| Yoshida, I | 3 |
| Aramaki, S | 2 |
| Aoki, K | 2 |
| Inokuchi, T | 2 |
| Mikami, H | 1 |
| Narisawa, K | 1 |
| Strømme, P | 1 |
| Stokke, O | 1 |
| Jellum, E | 1 |
| Skjeldal, OH | 1 |
| Baumgartner, R | 4 |
| Zass, R | 1 |
| Leupold, D | 1 |
| Fernandez, MA | 1 |
| Wendel, U | 5 |
| Henriquez, H | 1 |
| el Din, A | 1 |
| Ozand, PT | 1 |
| Subramanyam, SB | 1 |
| al Gain, SI | 1 |
| Qureshi, AA | 1 |
| Cooper, BA | 1 |
| Diss, E | 1 |
| Iams, J | 1 |
| Reed, N | 1 |
| Roe, DS | 1 |
| Roe, C | 1 |
| Bonham, JR | 1 |
| Downing, M | 1 |
| Pollitt, RJ | 1 |
| Manning, NJ | 1 |
| Carpenter, KH | 1 |
| Olpin, SE | 1 |
| Allen, JC | 1 |
| Worthy, E | 1 |
| Blum, D | 1 |
| Dorchy, H | 1 |
| Mouraux, T | 1 |
| Vamos, E | 1 |
| Mardens, Y | 1 |
| Kumps, A | 1 |
| De Prez, C | 1 |
| Heimann, P | 1 |
| Kajita, M | 1 |
| Niwa, T | 1 |
| Watanabe, K | 1 |
| Brass, EP | 1 |
| Fraser, AD | 1 |
| Gold, R | 1 |
| Bogdahn, U | 1 |
| Kappos, L | 1 |
| Toyka, KV | 1 |
| Drennan, CL | 1 |
| Matthews, RG | 1 |
| Ledley, FD | 2 |
| Ludwig, ML | 1 |
| Kuriya, N | 1 |
| Kato, H | 1 |
| Podell, M | 1 |
| Shelton, GD | 2 |
| Wagner, SO | 1 |
| Genders, A | 1 |
| Oglesbee, M | 1 |
| Fenner, WR | 1 |
| Johnson, AW | 1 |
| Mills, K | 1 |
| Clayton, PT | 1 |
| Parnet, JM | 1 |
| Divry, P | 1 |
| Vianey-Saban, C | 1 |
| Mathieu, M | 1 |
| Ruiz, JI | 1 |
| Montejo, M | 1 |
| Andersson, HC | 1 |
| Shapira, E | 1 |
| Gérard, M | 1 |
| Nicolaides, P | 1 |
| Leonard, J | 1 |
| Surtees, R | 1 |
| Aguilar, R | 1 |
| Castro, M | 1 |
| Dudley, J | 1 |
| Allen, J | 1 |
| Tizard, J | 1 |
| McGraw, M | 1 |
| Larnaout, A | 1 |
| Mongalgi, MA | 1 |
| Kaabachi, N | 1 |
| Khiari, D | 1 |
| Debbabi, A | 1 |
| Mebazza, A | 1 |
| Ben Hamida, M | 1 |
| Hentati, F | 1 |
| Halket, JM | 1 |
| Przyborowska, A | 1 |
| Stein, SE | 1 |
| Mallard, WG | 1 |
| Down, S | 1 |
| Chalmers, RA | 5 |
| Cederbaum, S | 1 |
| Vilain, E | 1 |
| Cerone, R | 3 |
| Schiaffino, MC | 2 |
| Caruso, U | 3 |
| Lupino, S | 1 |
| Gatti, R | 2 |
| Barkovich, AJ | 1 |
| Fredrick, DR | 1 |
| Weisiger, K | 1 |
| Ohnstad, C | 1 |
| Packman, S | 1 |
| Hagen, T | 1 |
| Korson, MS | 1 |
| Sakamoto, M | 1 |
| Evans, JE | 1 |
| Augoustides-Savvopoulou, P | 1 |
| Mylonas, I | 1 |
| Sewell, AC | 2 |
| Bibi, H | 1 |
| Gelman-Kohan, Z | 1 |
| Chang, CC | 2 |
| Hsiao, KJ | 2 |
| Lee, YM | 1 |
| Lin, CM | 2 |
| Gaddipati, S | 1 |
| Snyderman, SE | 2 |
| Eddleman, K | 1 |
| Desnick, RJ | 1 |
| Sansaricq, C | 1 |
| van't Hoff, W | 1 |
| McKiernan, PJ | 2 |
| Surtees, RA | 1 |
| O'Brien, DP | 1 |
| Faunt, KK | 1 |
| Johnson, GC | 1 |
| Gibson, KM | 1 |
| Chen, ML | 1 |
| Matsuo, N | 1 |
| Sato, S | 1 |
| Ohki, H | 1 |
| Momoshima, S | 1 |
| Mochida, GH | 1 |
| Sasaki, G | 1 |
| Ikeda, E | 1 |
| Hata, J | 1 |
| Podebrad, F | 1 |
| Heil, M | 1 |
| Beck, T | 1 |
| Mosandl, A | 1 |
| Böhles, H | 1 |
| Ho, D | 1 |
| Harrison, V | 1 |
| Street, N | 1 |
| Bonafé, L | 1 |
| Troxler, H | 1 |
| Kuster, T | 1 |
| Heizmann, CW | 1 |
| Burlina, AB | 1 |
| Blau, N | 1 |
| Ciani, F | 1 |
| Donati, MA | 1 |
| Tulli, G | 1 |
| Poggi, GM | 1 |
| Pasquini, E | 1 |
| Zammarchi, E | 1 |
| Patton, N | 1 |
| Beatty, S | 1 |
| Lloyd, IC | 1 |
| Wraith, JE | 1 |
| Bellieni, CV | 1 |
| Ferrari, F | 1 |
| De Felice, C | 1 |
| Bagnoli, F | 1 |
| Cioni, M | 1 |
| Farnetani, M | 1 |
| Gatti, MG | 1 |
| Buonocore, G | 1 |
| Kawakami, C | 1 |
| Tamai, H | 1 |
| Birek, L | 1 |
| Walker, T | 1 |
| Phalin-Roque, J | 1 |
| Chandler, MJ | 1 |
| Field, C | 1 |
| Zorn, E | 1 |
| Matsubara, Y | 1 |
| Tomaske, M | 1 |
| Bosk, A | 1 |
| Heinemann, MK | 1 |
| Sieverding, L | 1 |
| Trefz, FK | 1 |
| Farkas, LM | 1 |
| Feyh, P | 1 |
| Hinz, A | 1 |
| Sauer, S | 1 |
| Unsicker, K | 1 |
| Chakrapani, A | 1 |
| Sivakumar, P | 1 |
| Trindade, VM | 1 |
| Brusque, AM | 1 |
| Raasch, JR | 1 |
| Pettenuzzo, LE | 1 |
| Rocha, HP | 1 |
| Wannmacher, CM | 1 |
| Wajne, M | 1 |
| Morrow, G | 2 |
| Revsin, B | 2 |
| Lebowitz, J | 2 |
| Britt, W | 1 |
| Giles, H | 1 |
| Wick, H | 2 |
| Gaull, GE | 1 |
| Steinmann, B | 2 |
| Maurer, R | 1 |
| Egli, N | 1 |
| Ambani, LM | 1 |
| Perri, GC | 1 |
| Mostafanejad, K | 1 |
| Bakker, HD | 1 |
| van Gennip, AH | 1 |
| Woolf, LI | 1 |
| Vaandrager, GJ | 1 |
| Williams, AJ | 1 |
| Ireland, JT | 1 |
| Nakamura, E | 1 |
| Bellini, C | 1 |
| Bonacci, W | 1 |
| Magliano, CP | 1 |
| Serra, G | 1 |
| Romano, C | 1 |
| Geraghty, MT | 1 |
| Perlman, EJ | 1 |
| Martin, LS | 1 |
| Hayflick, SJ | 1 |
| Casella, JF | 1 |
| Valle, D | 1 |
| Davies, SE | 1 |
| Iles, RA | 1 |
| Stacey, TE | 2 |
| Buchanan, DN | 1 |
| Muenzer, J | 1 |
| Thoene, JG | 1 |
| Coude, MM | 1 |
| Charpentier, C | 2 |
| Bonnefont, JP | 4 |
| Cheron, G | 1 |
| Kamoun, P | 2 |
| Kamoun, PP | 1 |
| Chadefaux, B | 2 |
| van der Meer, SB | 2 |
| Spaapen, LJ | 2 |
| Gerhardt, M | 1 |
| Burke, EM | 1 |
| Brandt, IK | 1 |
| Crabb, DW | 1 |
| Molteni, KH | 1 |
| Oberley, TD | 1 |
| Wolff, JA | 3 |
| Friedman, AL | 1 |
| Evans, MI | 1 |
| Schulman, JD | 2 |
| Kodama, S | 1 |
| Sugiura, M | 1 |
| Nakao, H | 1 |
| Kobayashi, K | 1 |
| Miyoshi, M | 1 |
| Yoshii, K | 1 |
| Komatsu, M | 1 |
| Sakurai, T | 1 |
| D'Angio, CT | 1 |
| Dillon, MJ | 1 |
| Shapira, SK | 1 |
| Roodhooft, AM | 1 |
| Martin, JJ | 1 |
| Blom, W | 1 |
| Van Acker, KJ | 1 |
| Thompson, GN | 5 |
| Halliday, D | 4 |
| Rasmussen, K | 1 |
| Nathan, E | 1 |
| Bresson, JL | 3 |
| Ford, GC | 2 |
| Lyonnet, SL | 1 |
| Kleijer, WJ | 1 |
| Kidouchi, K | 1 |
| Kobayashi, M | 1 |
| Wada, Y | 1 |
| Ribes, A | 1 |
| Briones, P | 1 |
| Vilaseca, MA | 1 |
| Lluch, M | 1 |
| Rodes, M | 1 |
| Maya, A | 1 |
| Campistol, J | 1 |
| Pascual, P | 1 |
| Koopman, RJ | 1 |
| Happle, R | 1 |
| Morita, J | 1 |
| Ito, Y | 1 |
| Koga, Y | 1 |
| Yamashita, F | 1 |
| Coude, M | 1 |
| Bain, MD | 1 |
| Christodoulou, J | 1 |
| Wulfeck, BB | 1 |
| Tallal, P | 1 |
| Marsden, DL | 1 |
| Carroll, JE | 1 |
| Prodanos, C | 1 |
| Haas, R | 1 |
| Tsukahara, M | 1 |
| Endo, F | 1 |
| Aoki, Y | 1 |
| Matsuo, K | 1 |
| Kajii, T | 1 |
| Allen, KR | 1 |
| Khan, R | 1 |
| Watson, D | 1 |
| Kok, AJ | 1 |
| van Zoeren-Grobben, D | 1 |
| van de Bor, M | 1 |
| Mooy, PD | 1 |
| van Gelderen, HH | 1 |
| Zakim, D | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders[NCT06092346] | 999 participants (Anticipated) | Observational | 2024-01-03 | Recruiting | |||
| Safety & Efficacy of Investigational Products: Ornithine Alpha-ketoglutarate, Glutamine, or Disodium Citrate on Hyperammonemia in Propionic Acidemia.[NCT00645879] | Phase 1 | 3 participants (Actual) | Interventional | 2008-07-31 | Completed | ||
| 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 | ||
| Cortical Excitability in Succinic Semialdehyde Dehydrogenase Deficiency[NCT00132366] | 60 participants | Observational | 2005-08-16 | Completed | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
26 reviews available for methylmalonic acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report.
Topics: Abnormalities, Multiple; Child; Craniofacial Abnormalities; Face; Female; Homocystinuria; Humans; Me | 2010 |
[Inherited metabolic disorders accompanied with epileptic manifestations].
Topics: Epilepsy; Gangliosidoses, GM2; Gaucher Disease; Humans; Infant; Infant, Newborn; Leukodystrophy, Glo | 2002 |
Regulation of the mitochondrial ATP-synthase in health and disease.
Topics: Animals; Brain; Brain Diseases, Metabolic, Inborn; Cells, Cultured; Chickens; Disease; Disease Model | 2003 |
Capillary electrophoresis for the determination of organic acidurias in body fluids: a review.
Topics: Carboxylic Acids; Electrophoresis, Capillary; Glutarates; Humans; Infant, Newborn; Lactates; Lactic | 2003 |
Methylmalonic acid--an endogenous toxin?
Topics: Energy Metabolism; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Mitochondria; Neurotoxins; | 2005 |
Methylmalonic and propionic acidaemias: management and outcome.
Topics: Child, Preschool; Humans; Infant; Infant, Newborn; Long-Term Care; Metabolism, Inborn Errors; Methyl | 2005 |
Methylmalonic and propionic aciduria.
Topics: Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Propionates | 2006 |
Methylmalonic and propionic aciduria.
Topics: Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Propionates | 2006 |
Methylmalonic and propionic aciduria.
Topics: Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Propionates | 2006 |
Methylmalonic and propionic aciduria.
Topics: Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Propionates | 2006 |
Current role of liver transplantation for methylmalonic acidemia: a review of the literature.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Liver Transplantation; Living Do | 2006 |
Vitamin-responsive inborn errors of metabolism.
Topics: Acetyl-CoA Carboxylase; Acidosis; Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Folic Acid; | 1983 |
Cobalamin deficiency and related disorders in infancy and childhood.
Topics: Child, Preschool; Diagnosis, Differential; Female; Folic Acid Deficiency; Homocystinuria; Humans; In | 1982 |
Inherited disorders of cobalamin metabolism.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Animals; Bacterial Proteins; Biological E | 1994 |
Overview of coenzyme A metabolism and its role in cellular toxicity.
Topics: Acyl Coenzyme A; Animals; Biotransformation; Coenzyme A; Humans; Liver; Metabolism, Inborn Errors; M | 1994 |
Remethylation defects: guidelines for clinical diagnosis and treatment.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adult; Betaine; Child, Preschool; Folic A | 1998 |
[N5-methyltetrahydrofolate: homocysteine methyltransferase deficiency].
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Diagnosis, Differential; Humans; Metaboli | 1998 |
[Isolated methylmalonyl-CoA mutase deficiency].
Topics: Diagnosis, Differential; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mu | 1998 |
[Defects in adenosylcobalamin biosynthesis].
Topics: Cobamides; Diagnosis, Differential; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Prognosis | 1998 |
[Methylmalonic acidemia].
Topics: Anemia, Megaloblastic; Diagnosis, Differential; Humans; Immune System Diseases; Metabolism, Inborn E | 2000 |
[Acidemia, methylmalonic].
Topics: Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase | 2001 |
The dietary therapy of inherited metabolic disease.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C | 1975 |
Genetic and biochemical analysis of human cobalamin mutants in cell culture.
Topics: Animals; Clone Cells; Cobamides; Genetic Complementation Test; Humans; Hybrid Cells; Leukocytes; Mal | 1978 |
Vitamin-responsive inherited metabolic disorders.
Topics: Adolescent; Adult; Anemia, Megaloblastic; Avitaminosis; Biological Transport; Biotin; Carrier Protei | 1976 |
The dietary treatment of inborn errors of metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Child; Female; Folic Acid; | 1976 |
Vitamin B12 (Cbl)-responsive disorders.
Topics: Cobamides; Humans; Lysosomes; Metabolism, Inborn Errors; Methylmalonic Acid; NADH, NADPH Oxidoreduct | 1992 |
In utero treatment of fetal metabolic disorders.
Topics: Adrenal Hyperplasia, Congenital; Female; Fetal Diseases; Humans; Metabolism, Inborn Errors; Methylma | 1991 |
Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia.
Topics: Acidosis; Central Nervous System Diseases; Child; Child, Preschool; Combined Modality Therapy; Fibro | 1990 |
Biochemical foundations of preventive medicine: the study of abnormal enzymes.
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Cystathionine gamma-Lyase; Erythrocytes; Genes, | 1974 |
4 trials available for methylmalonic acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Neuropsychiatric disturbances in presumed late-onset cobalamin C disease.
Topics: Adolescent; Adult; Brain; Cobamides; Female; Fibroblasts; Homocysteine; Humans; Mental Disorders; Me | 2003 |
Effect of docosahexaenoic acid administration on plasma lipid profile and metabolic parameters of children with methylmalonic acidaemia.
Topics: Adolescent; alpha-Linolenic Acid; Arachidonic Acid; Case-Control Studies; Child; Cross-Over Studies; | 2006 |
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 |
Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism.
Topics: Carnitine; Child; Child, Preschool; Depression, Chemical; Fasting; Female; Humans; Infant; Ketone Bo | 1986 |
197 other studies available for methylmalonic acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Topics: Carboxy-Lyases; Carnitine; Child, Preschool; Consanguinity; Homozygote; Humans; Male; Malonates; Mal | 2021 |
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.
Topics: Biological Assay; Biomarkers; Case-Control Studies; Citrates; Dried Blood Spot Testing; Humans; Meta | 2019 |
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 |
A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy.
Topics: Carboxy-Lyases; Cardiomyopathy, Dilated; Codon, Initiator; Humans; Infant; Male; Malonates; Malonyl | 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 |
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 |
Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients.
Topics: Adult; Cardiovascular Diseases; Child, Preschool; Cross-Sectional Studies; Female; Folic Acid; Folic | 2021 |
Malonyl coenzyme A decarboxylase deficiency with a novel mutation.
Topics: Carboxy-Lyases; Humans; Infant, Newborn; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmaloni | 2021 |
Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.
Topics: Animals; Biomarkers; Carboxy-Lyases; Female; Humans; Limit of Detection; Male; Malonates; Malonyl Co | 2017 |
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
Topics: Adolescent; Adult; Alleles; Child; Child, Preschool; Coenzyme A Ligases; Cohort Studies; Creatinine; | 2019 |
Topics: Aged; Dementia; Humans; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Parkinson Dis | 2019 |
A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B
Topics: Adult; Aged; Aged, 80 and over; Alkyl and Aryl Transferases; Biomarkers; Energy Metabolism; Female; | 2019 |
Malonyl-CoA decarboxylase deficiency: long-term follow-up of a patient new clinical features and novel mutations.
Topics: Adolescent; Age of Onset; Base Sequence; Blotting, Western; Carboxy-Lyases; Child; Child, Preschool; | 2015 |
Malonic aciduria: long-term follow-up of new patients detected by newborn screening.
Topics: Carboxy-Lyases; Child; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Infant; Infant, N | 2014 |
Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.
Topics: Acetylcarnitine; Acidosis; Asian People; Asymptomatic Diseases; Carboxy-Lyases; Carnitine; Carrier P | 2015 |
Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation.
Topics: Animals; Carboxy-Lyases; Cell Line; Fatty Acids; Fibroblasts; Humans; Liver; Lysine; Male; Malonates | 2015 |
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 new case of malonyl-CoA decarboxylase deficiency with mild clinical features.
Topics: Acidosis; Adolescent; Base Sequence; Carboxy-Lyases; Cardiomyopathies; Child; Chromosomes; Exons; Fe | 2016 |
Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
Topics: Adolescent; Age of Onset; Anterior Eye Segment; Carrier Proteins; Child; Child, Preschool; Disease P | 2008 |
Brain damage by mild metabolic derangements in methylmalonic acidemia.
Topics: Brain; Child, Preschool; Humans; Hyperammonemia; Infant; Infant, Newborn; Magnetic Resonance Imaging | 2008 |
[A clinical analysis of methylmalonic acidemia in adolescents].
Topics: Adolescent; Age of Onset; Female; Humans; Male; Metabolism, Inborn Errors; Methylmalonic Acid | 2008 |
[Report of a case with methylmalonic acidemia].
Topics: Female; Humans; Infant; Metabolism, Inborn Errors; Methylmalonic Acid | 2008 |
Enamel defects and salivary methylmalonate in methylmalonic acidemia.
Topics: Adolescent; Adult; Biomarkers; Case-Control Studies; Child; Dental Enamel; Dentition, Permanent; Fem | 2009 |
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.
Topics: Case-Control Studies; Cells, Cultured; Down-Regulation; Female; Fibroblasts; Humans; Metabolism, Inb | 2009 |
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation.
Topics: Carnitine; Child; Child, Preschool; Female; Humans; Infant; Liver Transplantation; Male; Metabolism, | 2010 |
Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.
Topics: Amino Acid Substitution; Carrier Proteins; Electrophoresis, Polyacrylamide Gel; Homocystinuria; Huma | 2009 |
Management of West syndrome in a patient with methylmalonic aciduria.
Topics: Brain; Child, Preschool; Diffusion Magnetic Resonance Imaging; Electroencephalography; Follow-Up Stu | 2010 |
High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Demography; Diagnostic Imaging; Female; Folic Acid; Hear | 2009 |
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Topics: Algorithms; Carnitine; Demography; False Positive Reactions; Female; Follow-Up Studies; Genetic Asso | 2010 |
A G-protein editor gates coenzyme B12 loading and is corrupted in methylmalonic aciduria.
Topics: Base Sequence; Calorimetry; Cobamides; DNA Primers; Electron Spin Resonance Spectroscopy; GTP-Bindin | 2009 |
An ethical and policy analysis of elective transplantation for metabolic conditions diagnosed by newborn screening.
Topics: Elective Surgical Procedures; Ethics, Clinical; Health Policy; Humans; Infant, Newborn; Liver Transp | 2010 |
Glutaric aciduria type I and methylmalonic aciduria: simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus.
Topics: Animals; Base Sequence; Blood-Brain Barrier; Brain; Cells, Cultured; Choroid Plexus; Dicarboxylic Ac | 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 |
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
Topics: Amino Acid Sequence; Antigens, CD; Base Sequence; Cells, Cultured; DNA Mutational Analysis; Female; | 2010 |
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
Topics: Angiotensin-Converting Enzyme Inhibitors; Captopril; Carboxy-Lyases; Cardiomyopathies; Carnitine; Ch | 2010 |
Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.
Topics: Exons; Frameshift Mutation; Genetic Association Studies; Genetic Testing; Heterozygote; Humans; Hype | 2011 |
Inborn errors of cobalamin absorption and metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Cobamides; Homocysteine; Humans; Hyperh | 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 |
Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.
Topics: Carrier Proteins; Genotype; Homocystinuria; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors | 2011 |
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Topics: Adolescent; Aged; Amino Acid Sequence; Carboxy-Lyases; Child, Preschool; Coenzyme A Ligases; Exons; | 2011 |
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.
Topics: Asian People; Base Sequence; Carboxy-Lyases; Child, Preschool; China; DNA Mutational Analysis; Heter | 2012 |
Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.
Topics: Alleles; Carboxy-Lyases; Cardiomyopathies; Carnitine; Chromosome Aberrations; Chromosome Deletion; C | 2012 |
Sani-cloth wipe mimics rare enzyme deficiency malonic aciduria on newborn screen.
Topics: Blood Chemical Analysis; Carboxy-Lyases; Drug Contamination; Equipment and Supplies, Hospital; False | 2012 |
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment.
Topics: Carboxy-Lyases; Child, Preschool; Early Diagnosis; Humans; Infant, Newborn; Male; Malonyl Coenzyme A | 2013 |
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver.
Topics: Acute Kidney Injury; Adult; Disease Progression; Female; Humans; Liver Transplantation; Metabolism, | 2002 |
Metabolic treatment of pregnancy and postdelivery period in a patient with cobalamin A disease.
Topics: Cobamides; Female; Humans; Hydroxocobalamin; Metabolism, Inborn Errors; Methylmalonic Acid; Pregnanc | 2002 |
Successful pregnancy in a woman with mut- methylmalonic acidaemia.
Topics: Adult; Carnitine; Female; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Pregnancy; Pregnanc | 2002 |
Two cases of benign methylmalonic aciduria detected during a pilot study of neonatal urine screening.
Topics: Female; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Neonatal Scree | 2002 |
Practical management of combined methylmalonicaciduria and homocystinuria.
Topics: Adolescent; Adult; Betaine; Carnitine; Child; Child, Preschool; Female; Folic Acid; Gastrointestinal | 2002 |
Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.
Topics: Genotype; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mutation; | 2002 |
Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
Topics: Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Cell Line; Chromosome Mapping; Chromoso | 2002 |
L-carnitine in inborn errors of metabolism: what is the evidence?
Topics: Acyl-CoA Dehydrogenase; Carnitine; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Propionate | 2003 |
14C-propionate incorporation assay by rapid filtration in multiwell plates.
Topics: Age of Onset; Carbon Radioisotopes; Child, Preschool; Female; Filtration; Humans; Infant; Infant, Ne | 2004 |
An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury.
Topics: Child Abuse; Diagnosis, Differential; Female; Hematoma; Hematoma, Subdural; Homocystinuria; Humans; | 2004 |
[Diagnosis and treatment of methylmalonic acidemia in 14 cases].
Topics: Acidosis; Acids; Child; Child, Preschool; Diet, Protein-Restricted; Female; Humans; Infant; Infant, | 2004 |
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
Topics: Child, Preschool; Chromosomes, Human, Pair 4; Cobamides; DNA Mutational Analysis; Exons; Female; Gen | 2004 |
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.
Topics: Adolescent; Age of Onset; Asia; Carboxylic Acids; Child; Child, Preschool; Disease Progression; Drug | 2005 |
Simultaneous retention index analysis of urinary amino acids and carboxylic acids for graphic recognition of abnormal state.
Topics: Acetamides; Amino Acids; Carboxylic Acids; Child; Child, Preschool; Chromatography, Gas; Fluoroaceta | 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 |
Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry.
Topics: Amniotic Fluid; Carboxylic Acids; Carnitine; Female; Fetal Diseases; Gas Chromatography-Mass Spectro | 2005 |
[Application of tandem mass spectrometry in diagnosis of organic acidemias].
Topics: Adolescent; Child; Child, Preschool; Female; Filtration; Gas Chromatography-Mass Spectrometry; Gluta | 2005 |
Methylmalonic acidaemia: a rare metabolic disorder in pregnancy.
Topics: Adult; Cesarean Section; Female; Humans; Infant, Newborn; Infant, Premature; Metabolism, Inborn Erro | 2004 |
Fumarase deficiency presenting with periventricular cysts.
Topics: Brain; Cysts; DNA Mutational Analysis; DNA, Complementary; Electroencephalography; Fatal Outcome; Fe | 2005 |
Gene symbol: MUT. Disease: Methylmalonic aciduria.
Topics: Amino Acid Substitution; Codon; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl | 2005 |
Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria.
Topics: Adult; Cell Respiration; DNA Mutational Analysis; Energy Metabolism; Exercise Tolerance; Humans; Mal | 2005 |
Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia.
Topics: Adolescent; Cobamides; Female; Humans; Kidney Failure, Chronic; Kidney Transplantation; Metabolism, | 2006 |
Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis.
Topics: Diagnosis, Differential; Female; Hemolytic-Uremic Syndrome; Homocystinuria; Humans; Infant; Lymphohi | 2005 |
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism.
Topics: Carbamoyl-Phosphate Synthase I Deficiency Disease; Child, Preschool; Cytomegalovirus Infections; Eps | 2005 |
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Topics: Amino Acid Sequence; Bacterial Proteins; Carrier Proteins; Cell Line; Chromosome Mapping; Conserved | 2006 |
Biomarker discovery, disease classification, and similarity query processing on high-throughput MS/MS data of inborn errors of metabolism.
Topics: Acyl-CoA Dehydrogenase; Biomarkers; Carnitine; Case-Control Studies; Humans; Mass Spectrometry; Meta | 2006 |
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.
Topics: Alkyl and Aryl Transferases; Cells, Cultured; Child; Child, Preschool; Female; Genotype; Humans; Inf | 2006 |
Gene discovery in methylmalonic aciduria and homocystinuria.
Topics: Carrier Proteins; Cell Line; Homocystinuria; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; | 2006 |
Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.
Topics: Cell Culture Techniques; Cell Line; Child; Codon, Nonsense; Female; Fibroblasts; Genetic Complementa | 2006 |
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
Topics: Adolescent; Age of Onset; Carrier Proteins; Child; Ethnicity; Female; Fibroblasts; Heterozygote; Hom | 2006 |
Anaesthesia for liver transplantation in two infants with an organic acidaemia.
Topics: Anesthesia; Female; Humans; Infant; Liver Transplantation; Metabolism, Inborn Errors; Methylmalonic | 2006 |
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay.
Topics: Asian People; Carrier Proteins; Child, Preschool; DNA; Homocystinuria; Humans; Male; Metabolism, Inb | 2007 |
Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry.
Topics: Adult; Carnitine; Child, Preschool; Female; Humans; Isomerism; Male; Metabolism, Inborn Errors; Meth | 2007 |
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders.
Topics: Carnitine; Fatty Acids; Humans; Infant; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; | 2007 |
[Diagnosis and treatment of methylmalonic aciduria: a case report].
Topics: Acidosis; Amino Acid Substitution; Child, Preschool; Coma; Diet, Protein-Restricted; Diseases in Twi | 2007 |
High-volume continuous venovenous hemofiltration as an effective therapy for acute management of inborn errors of metabolism in young children.
Topics: Carbamoyl-Phosphate Synthase I Deficiency Disease; Child; Child, Preschool; Female; Hemofiltration; | 2007 |
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
Topics: Adolescent; Carnitine; Carrier Proteins; Child; Cysteine; Diagnosis, Differential; DNA Mutational An | 2007 |
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
Topics: Adult; Carrier Proteins; Female; Homocystinuria; Humans; Mental Disorders; Metabolism, Inborn Errors | 2007 |
Efficacy of living donor liver transplantation for patients with methylmalonic acidemia.
Topics: Child; Child, Preschool; Cognition Disorders; Female; Follow-Up Studies; Growth Disorders; Humans; I | 2007 |
Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway.
Topics: Apoptosis; Caspase 3; Caspase 9; Cells, Cultured; Fibroblasts; Glycerolphosphate Dehydrogenase; Huma | 2007 |
Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.
Topics: Adenoviridae; Animals; Animals, Newborn; Disease Models, Animal; Gene Transfer Techniques; Genetic T | 2008 |
Methylmalonic aciduria articles.
Topics: Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Vitamin B 12 Deficiency | 2008 |
Gene identification for the cblD defect of vitamin B12 metabolism.
Topics: Adolescent; Amino Acid Sequence; Child; Chromosomes, Human, Pair 2; DNA Mutational Analysis; Female; | 2008 |
Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.
Topics: Adolescent; Child, Preschool; Female; Homocystinuria; Humans; Infant; Macular Degeneration; Male; Me | 2008 |
Studies on cultured fibroblasts in a case of methylmalonic aciduria.
Topics: Apoenzymes; Cells, Cultured; Female; Fibroblasts; Humans; Hydroxocobalamin; In Vitro Techniques; Inf | 1984 |
Malonyl coenzyme A decarboxylase deficiency.
Topics: Acyl Coenzyme A; Carboxy-Lyases; Child, Preschool; Fatty Acid Synthases; Fibroblasts; Humans; Male; | 1984 |
Long term outcome of organic acidurias: survey of 105 French cases (1967-1983).
Topics: Acids; Adolescent; Child; Child, Preschool; France; Hemiterpenes; Humans; Infant; Infant, Newborn; M | 1984 |
The management and long term outcome of organic acidaemias.
Topics: Acids; Amidohydrolases; Biotinidase; Carbon-Carbon Ligases; Humans; Infant; Infant, Newborn; Ligases | 1984 |
Organic acids in urine: sample preparation for GC/MS.
Topics: Acids; Gas Chromatography-Mass Spectrometry; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; | 1984 |
Cerebellar hemorrhage complicating methylmalonic and propionic acidemia.
Topics: Acidosis; Bicarbonates; Cerebellar Diseases; Female; Hemorrhage; Humans; Infant, Newborn; Male; Malo | 1984 |
Identification of methyl-branched chain dicarboxylic acids in amniotic fluid and urine in propionic and methylmalonic acidemia.
Topics: Amniotic Fluid; Chromatography, Gas; Dicarboxylic Acids; Female; Humans; Malonates; Mass Spectrometr | 1984 |
[Blood methylmalonic acid. Clinical findings in 2 sisters].
Topics: Female; Humans; Infant, Newborn; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid | 1984 |
CAD MIKES: a new method for a rapid and unequivocal structural identification of organic acids in biological fluids. A first application to a case of methylmalonic aciduria.
Topics: Child, Preschool; Humans; Male; Malonates; Mass Spectrometry; Metabolism, Inborn Errors; Methylmalon | 1984 |
Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.
Topics: Carnitine; Child, Preschool; Humans; Infant; Infant, Newborn; Malonates; Metabolism, Inborn Errors; | 1984 |
Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy.
Topics: Adolescent; Child; Female; Homocystinuria; Humans; Hydroxocobalamin; Infant; Male; Malonates; Metabo | 1984 |
Screening of high risk infants for metabolic disease in a metropolitan hospital.
Topics: Amino Acids; Ammonia; Carboxylic Acids; Humans; Infant, Newborn; Infant, Newborn, Diseases; Lactates | 1981 |
[Vitamin-B12-dependent methylmalonic acidemia in twins].
Topics: Acidosis; Diseases in Twins; Glycine; Humans; Infant; Malonates; Metabolism, Inborn Errors; Methylma | 1983 |
Abnormal deoxyuridine suppression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: divergent biochemical and morphological bone marrow manifestations of disordered cobalamin metabolism in man.
Topics: Adolescent; Adult; Anemia, Megaloblastic; Bone Marrow; Deoxyuridine; Homocystinuria; Humans; Male; M | 1982 |
Screening for metabolic disease in a metropolitan hospital.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Hospitals, Municipal; Humans; Infant, Newborn; Me | 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 |
The defect in the cbl B class of human methylmalonic acidemia: deficiency of cob(I)alamin adenosyltransferase activity in extracts of cultured fibroblasts.
Topics: Alkyl and Aryl Transferases; Cell Line; Female; Fibroblasts; Humans; Kinetics; Male; Malonates; Meta | 1981 |
Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic aciduria.
Topics: Child; Child, Preschool; Chromatography, Paper; False Negative Reactions; Humans; Indicators and Rea | 1981 |
Inhibition of bone marrow stem cell growth in vitro by methylmalonic acid: a mechanism for pancytopenia in a patient with methylmalonic acidemia.
Topics: Bone Marrow; Bone Marrow Cells; Hematopoietic Stem Cells; Humans; In Vitro Techniques; Infant; Malon | 1981 |
Epileptiform ocular movements with methylmalonic aciduria and homocystinuria.
Topics: Child; Child, Preschool; Cobamides; Epilepsy; Eye Movements; Eyelid Diseases; Female; Homocystinuria | 1980 |
[Quantitative thin layer chromatographic analysis of methylmalonic acid in urine].
Topics: Chromatography, Thin Layer; Diagnosis, Differential; Humans; Malonates; Metabolism, Inborn Errors; M | 1980 |
Prenatal diagnosis and therapy for a patient with vitamin B12-responsive methylmalonic acidaemia.
Topics: Female; Fetal Diseases; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Pregnancy; Prenatal D | 1995 |
Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings--a new recessive syndrome?
Topics: Adult; Cataract; Child; Female; Genes, Recessive; Humans; Magnetic Resonance Imaging; Male; Metaboli | 1995 |
Evaluation of prenatal treatment in newborns with cobalamin-responsive methylmalonic acidaemia.
Topics: Adipose Tissue; Fatty Acids; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Methylmalon | 1995 |
Methylmalonic aciduria in pregnancy: a case report.
Topics: Adult; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Methylmalonic Acid; Pregnancy; Pr | 1995 |
Quality assessment of urinary organic acid analysis.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Carboxylic Acids; Chromatography, Gas; Gas Chromato | 1994 |
Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia.
Topics: Autopsy; Cytoplasmic Granules; Diabetes Complications; Diabetes Mellitus; Female; Glucagon; Humans; | 1993 |
Analysis of urinary organic acids by liquid chromatography-atmospheric pressure chemical ionization mass spectrometry.
Topics: Acids; Adolescent; Adult; Atmospheric Pressure; Benzoates; Child; Chromatography, Liquid; Female; Hu | 1993 |
Ethylene glycol, glycolic acid, and metabolic acidosis of unknown origin.
Topics: Acidosis; Diagnosis, Differential; Ethylene Glycol; Ethylene Glycols; Glycolates; Humans; Infant; Me | 1993 |
Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset.
Topics: Adult; Child; Female; Homocystinuria; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Vitamin | 1996 |
Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Alleles; Amino Acid Sequence; Animals; Ba | 1996 |
Renal handling of methylmalonic acid in a uraemic patient with vitamin B12-unresponsive methylmalonic acidaemia.
Topics: Child, Preschool; Female; Humans; Kidney; Metabolism, Inborn Errors; Methylmalonic Acid; Uremia; Vit | 1996 |
Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy.
Topics: Animals; Brain; Dog Diseases; Dogs; Electromyography; Encephalomyelitis; Female; Gas Chromatography- | 1996 |
The use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots.
Topics: Biliary Atresia; Carnitine; Child; Fatty Acid Desaturases; Humans; Infant, Newborn; Maple Syrup Urin | 1996 |
Stable-isotope selected-ion monitoring quantification of methylmalonic acid in dried filter-paper urine samples.
Topics: Deuterium; Gas Chromatography-Mass Spectrometry; Humans; Metabolism, Inborn Errors; Methylmalonic Ac | 1996 |
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 |
Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC).
Topics: Child; Child, Preschool; Female; Growth; Homocystine; Homocystinuria; Humans; Hydroxocobalamin; Infa | 1998 |
Neurological outcome of methylmalonic acidaemia.
Topics: Adolescent; Adult; Age of Onset; Child; Child, Preschool; Cognition Disorders; Dystonia; Female; Hum | 1998 |
Capillary electrophoresis for rapid profiling of organic acidurias.
Topics: Carboxylic Acids; Electrophoresis, Capillary; Glutarates; Humans; Infant; Infant, Newborn; Metabolis | 1998 |
Benign methylmalonic acidemia in a sibship with distal renal tubular acidosis.
Topics: Acidosis, Renal Tubular; Calcium; Failure to Thrive; Humans; Infant, Newborn; Isoleucine; Kidney Fun | 1998 |
Methylmalonic acidaemia with bilateral globus pallidus involvement: a neuropathological study.
Topics: Cobamides; Fatal Outcome; Globus Pallidus; Humans; Infant; Male; Metabolism, Inborn Errors; Methylma | 1998 |
Deconvolution gas chromatography/mass spectrometry of urinary organic acids--potential for pattern recognition and automated identification of metabolic disorders.
Topics: Acyl-CoA Dehydrogenase; Autoanalysis; Child, Preschool; Dicarboxylic Acids; Fatty Acid Desaturases; | 1999 |
Newborn screening for inborn errors of metabolism is going to expand: are we ready?
Topics: False Positive Reactions; Humans; Infant, Newborn; Mass Spectrometry; Metabolism, Inborn Errors; Met | 1999 |
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Face; Homocystinuria; Humans; Male; Metabolism, In | 1999 |
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.
Topics: Brain; Child, Preschool; Disease Progression; Female; Humans; Hydroxocobalamin; Magnetic Resonance I | 1999 |
A GC/MS/MS screening method for multiple organic acidemias from urine specimens.
Topics: Acids; Adipates; Automation; Biomarkers; Caprylates; Decanoic Acids; Dicarboxylic Acids; Fumarates; | 1999 |
Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family.
Topics: Aging; Child; Dementia; Electroencephalography; Female; Homocystinuria; Humans; Hydroxocobalamin; Le | 1999 |
Transcobalamin II deficiency with methylmalonic aciduria in three sisters.
Topics: Cells, Cultured; Female; Fibroblasts; Follow-Up Studies; Humans; Infant; Infant, Newborn; Ketosis; M | 1999 |
Towards metabolic sink therapy for mut methylmalonic acidaemia: correction of methylmalonyl-CoA mutase deficiency in T lymphocytes from a mut methylmalonic acidaemia child by retroviral-mediated gene transfer.
Topics: 3T3 Cells; Animals; Child; Feasibility Studies; Gene Transfer Techniques; Genetic Vectors; Humans; K | 1999 |
Successful pregnancy in severe methylmalonic acidaemia.
Topics: Acidosis; Adult; Female; Humans; Hydroxocobalamin; Infant, Newborn; Male; Metabolism, Inborn Errors; | 1999 |
Liver transplantation for methylmalonic acidaemia.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Kidney Transplantation; Liver Transplan | 1999 |
Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts.
Topics: Animals; Carboxy-Lyases; Diet; Dog Diseases; Dogs; Epilepsy, Tonic-Clonic; Female; Fibroblasts; Malo | 1999 |
Towards metabolic sink therapy for mut methylmalonic acidaemia: retrovirus-mediated transfer of the human methylmalonyl-CoA mutase cDNA into peripheral blood progenitor cells of a child with mut methylmalonic acidaemia.
Topics: Antigens, CD34; Child; Genetic Therapy; Hematopoietic Stem Cell Transplantation; Hematopoietic Stem | 1999 |
A two-year-old female with methylmalonic acidemia and progressive low density lesions in the basal ganglia on CT scans.
Topics: Basal Ganglia; Child, Preschool; Fatal Outcome; Female; Humans; Metabolism, Inborn Errors; Methylmal | 1999 |
Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography-mass spectrometry.
Topics: Aldehyde Oxidoreductases; Aminoisobutyric Acids; Case-Control Studies; Evaluation Studies as Topic; | 2000 |
Anaesthesia for liver transplantation in a patient with methylmalonic acidaemia.
Topics: Acid-Base Equilibrium; Anesthesia, Inhalation; Anesthetics, Inhalation; Humans; Infant; Isoflurane; | 2000 |
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Amidohydrolases; Biotinidase; Carbon-Nitrogen Ligases; Ch | 2000 |
Lethal late onset cblB methylmalonic aciduria.
Topics: Adaptor Proteins, Signal Transducing; Carrier Proteins; Child; Critical Illness; Fatal Outcome; Fema | 2000 |
Optic atrophy in association with cobalamin C (cblC) disease.
Topics: Age of Onset; Child, Preschool; Consanguinity; Female; Follow-Up Studies; Homocystine; Homocystinuri | 2000 |
Facial anomalies in combined methylmalonic aciduria and homocystinuria.
Topics: Child; Child, Preschool; Face; Homocystinuria; Humans; Metabolism, Inborn Errors; Methylmalonic Acid | 2000 |
EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria.
Topics: Electroencephalography; Female; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Infant, Newb | 2000 |
Therapy of metabolic disorders with intravenous (IV) access ports and long term intravenous L-carnitine therapy.
Topics: Carnitine; Catheters, Indwelling; Female; Humans; Infusions, Intravenous; Metabolism, Inborn Errors; | 1999 |
CblC/D defect combined with haemodynamically highly relevant VSD.
Topics: Female; Folic Acid; Heart Septal Defects, Ventricular; Homocysteine; Homocystinuria; Humans; Hydroxo | 2001 |
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity.
Topics: Animals; Cells, Cultured; Citrates; Citric Acid Cycle; Corpus Striatum; Electron Transport Complex I | 2002 |
Metabolic stroke in methylmalonic acidemia five years after liver transplantation.
Topics: Age of Onset; Child, Preschool; Female; Humans; Liver Transplantation; Metabolism, Inborn Errors; Me | 2002 |
Ganglioside alterations in the central nervous system of rats chronically injected with methylmalonic and propionic acids.
Topics: Animals; Animals, Newborn; Body Weight; Central Nervous System; Cerebellum; Cerebral Cortex; Drug Ad | 2002 |
Detection of errors in methylmalonyl-CoA metabolism by using amniotic fluid.
Topics: Amniotic Fluid; Cells, Cultured; Coenzyme A; False Positive Reactions; Female; Humans; Malonates; Me | 1977 |
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Topics: Carboxy-Lyases; Fibroblasts; Glycine; Humans; In Vitro Techniques; Isoleucine; Metabolism, Inborn Er | 1977 |
Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acids; Coenzymes; Homocystinuria; H | 1979 |
Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology.
Topics: Blood Vessels; Homocystinuria; Humans; Infant; Kidney; Lung; Male; Malonates; Metabolism, Inborn Err | 1979 |
Vitamin responsive inborn errors of metabolism.
Topics: Humans; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Pyridoxine; Vitamin B 12 | 1979 |
[Water-soluble vitamins in therapy: cobalamins].
Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Cobamides; Humans; Malonates; Metabolism, Inborn Errors; | 1977 |
Nursing care study: methylmalonic acidaemia.
Topics: Acidosis; Humans; Male; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Pediatric Nursing; | 1978 |
Methylmalonate excretion in a pregnancy at risk for methylmalonic acidaemia.
Topics: Female; Humans; Infant, Newborn; Male; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Pre | 1978 |
[Letter: Sudden infant death syndrome (SIDS)].
Topics: Acidosis; Female; Fibroblasts; Genetic Counseling; Humans; Infant; Metabolism, Inborn Errors; Methyl | 1975 |
Neonatal acidosis associated with transient methylmalonicaciduria and vitamin B12 deficiency.
Topics: Acid-Base Equilibrium; Acidosis; Humans; Infant, Newborn; Malonates; Metabolism, Inborn Errors; Meth | 1977 |
Microdetermination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography: use in prenatal diagnosis of methylmalonic acidemia and in studies of isovaleric acidemia.
Topics: Adult; Child; Chromatography, Gas; Colorimetry; Dicarboxylic Acids; Evaluation Studies as Topic; Fem | 1976 |
Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria.
Topics: Amino Acids; Female; Homocystinuria; Humans; Hydroxocobalamin; Infant, Newborn; Metabolism, Inborn E | 1992 |
Cobalamin C defect associated with hemolytic-uremic syndrome.
Topics: Female; Genes, Recessive; Hemolytic-Uremic Syndrome; Homocystinuria; Humans; Infant, Newborn; Metabo | 1992 |
Creatine metabolism during metabolic perturbations in patients with organic acidurias.
Topics: 3-Hydroxybutyric Acid; Carnitine; Child; Child, Preschool; Creatine; Creatinine; Female; Humans; Hyd | 1990 |
Positive-ion thermospray liquid chromatography-mass spectrometry: detection of organic acidurias.
Topics: Argininosuccinic Acid; Carboxylic Acids; Chromatography, Thin Layer; Female; Humans; Infant; Infant, | 1990 |
Organic acids in aqueous humour and plasma: post mortem study in infants and diagnosis of enzymopathies.
Topics: Adipates; Aqueous Humor; Carboxylic Acids; Fatty Acids; Gas Chromatography-Mass Spectrometry; Humans | 1991 |
Eleventh week amniocentesis for prenatal diagnosis of some metabolic diseases.
Topics: Amniocentesis; Amniotic Fluid; Argininosuccinic Acid; Chorionic Villi Sampling; Citrulline; Female; | 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 |
Methylmalonic aciduria presenting in an adult.
Topics: Acidosis; Adult; Alcoholism; Humans; Male; Metabolism, Inborn Errors; Methylmalonic Acid | 1991 |
Progressive renal insufficiency in methylmalonic acidemia.
Topics: Adolescent; Creatinine; Dietary Proteins; Female; Glomerular Filtration Rate; Humans; Ketosis; Kidne | 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 |
Renal tubular dysfunction in methylmalonic acidaemia.
Topics: Acidosis, Renal Tubular; Child; Child, Preschool; Glomerular Filtration Rate; Humans; Hydrogen-Ion C | 1991 |
Ketoacidotic crisis as a presentation of mild ("benign") methylmalonic acidemia.
Topics: Acidosis; Amino Acids; Ammonia; Child, Preschool; Female; Fibroblasts; Humans; Ketones; Ketosis; Met | 1991 |
In vivo enzyme activity in inborn errors of metabolism.
Topics: Adult; Bicarbonates; Carbon Isotopes; Child; Child, Preschool; Deuterium; Female; Humans; Hydroxylat | 1990 |
The clinical evaluation of cobalamin deficiency by determination of methylmalonic acid in serum or urine is not invalidated by the presence of heterozygous methylmalonic-acidaemia.
Topics: Adult; Female; Heterozygote; Humans; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Middle Age | 1990 |
Sources of propionate in inborn errors of propionate metabolism.
Topics: Amino Acids; Child; Child, Preschool; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Metroni | 1990 |
Prenatal treatment of a patient with vitamin B12-responsive methylmalonic acidemia.
Topics: Acidosis; Administration, Oral; Female; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Pregn | 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 |
In vivo propionate oxidation as a prognostic indicator in disorders of propionate metabolism.
Topics: Adolescent; Adult; Carbon Isotopes; Child; Child, Preschool; Female; Humans; Infant; Male; Malonates | 1990 |
Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.
Topics: Betaine; Child, Preschool; Female; Homocystinuria; Humans; Infant; Male; Malonates; Metabolism, Inbo | 1990 |
Cutaneous manifestations of methylmalonic acidemia.
Topics: Female; Humans; Infant; Infant, Newborn; Male; Malonates; Metabolism, Inborn Errors; Methylmalonic A | 1990 |
Persistent hyperkalaemia in vitamin B12 unresponsive methylmalonic acidaemia.
Topics: Child; Female; Glomerular Filtration Rate; Humans; Hyperaldosteronism; Hyperkalemia; Malonates; Meta | 1989 |
Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis.
Topics: Aqueous Humor; Autopsy; Female; Humans; Infant, Newborn; Malonates; Metabolism, Inborn Errors; Methy | 1989 |
Dietary restriction and methylmalonicaciduria.
Topics: Child; Dietary Proteins; Humans; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Propionat | 1989 |
Metabolic stroke in methylmalonic acidemia.
Topics: Basal Ganglia Diseases; Female; Humans; Infant; Malonates; Metabolism, Inborn Errors; Methylmalonic | 1989 |
Metabolic correlates of learning disability.
Topics: Child; Child, Preschool; Female; Humans; Language Development Disorders; Language Tests; Learning Di | 1989 |
Substrate disposal in metabolic disease: a comparison between rates of in vivo propionate oxidation and urinary metabolite excretion in children with methylmalonic acidemia.
Topics: Humans; Infant; Infant, Newborn; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Oxidation | 1989 |
Abnormality of odd-numbered long-chain fatty acids in erythrocyte membrane lipids from patients with disorders of propionate metabolism.
Topics: Adolescent; Adult; Child; Child, Preschool; Erythrocyte Membrane; Fatty Acids; Humans; Infant; Infan | 1989 |
Familial supernumerary non-satellited microchromosome.
Topics: Adult; Chromosome Aberrations; Chromosome Banding; Female; Genetic Markers; Humans; Male; Metabolism | 1986 |
The role of lipid in the management of methylmalonic acidaemia: administration of linoleic acid does not increase excretion of methylmalonic acid.
Topics: Child, Preschool; Dietary Fats; Female; Humans; Linoleic Acid; Linoleic Acids; Malonates; Metabolism | 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 |
Prenatal treatment of biochemical disorders.
Topics: Adrenal Hyperplasia, Congenital; Female; Fetal Diseases; Galactosemias; Humans; Metabolism, Inborn E | 1985 |