methylmalonic acid has been researched along with Propionic Acidemia in 20 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.
Propionic Acidemia: Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment." | 9.41 | Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial. ( Ababneh, F; Ahmed, H; Al Mutairi, F; Al Othaim, A; Alasmari, A; Albdah, B; Alfadhel, M; Alfares, A; Aljeraisy, M; Almannai, M; Alohali, L; Alswaid, A; Elamin, M; Eyaid, W; Faqeih, E; Hussein, MA; Nashabat, M; Rahbeeni, Z; Saleh, M; Umair, M, 2021) |
| "Evidence for effectiveness of newborn screening (NBS) for propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is scarce." | 7.96 | Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening? ( Bosch, AM; Brouwers, MCGJ; de Vries, MC; Haijes, HA; Jans, JJM; Janssen, MC; Langendonk, JG; Langeveld, M; Molema, F; Mulder, MF; Rubio-Gozalbo, ME; van der Ploeg, AT; van Hasselt, PM; van Spronsen, F; Verhoeven-Duif, NM; Wagenmakers, MA; Williams, M, 2020) |
| "Propionic acidemia (PA) and methylmalonic acidemia (MMA) are autosomal recessive disorders of propionyl-CoA (P-CoA) catabolism, which are caused by a deficiency in the enzyme propionyl-CoA carboxylase or the enzyme methylmalonyl-CoA (MM-CoA) mutase, respectively." | 7.96 | Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. ( Armstrong, AJ; Chapman, KA; Collado, MS; Day, N; Figler, RA; Hoang, SA; Olson, M; Reardon, J; Summar, M; Wamhoff, BR, 2020) |
| "Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL)." | 7.85 | Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. ( Baráth, Á; Baumgartner, MR; Fingerhut, R; Gramer, G; Hoffmann, GF; Klinke, G; Kölker, S; Monostori, P; Okun, JG; Richter, S, 2017) |
| "In propionic aciduria and methylmalonic aciduria, hyperammonemia as a symptom of metabolic decompensation is one of the major clinical problems." | 7.76 | N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. ( Donati, MA; Filippi, L; Fiorini, P; Gozzini, E; la Marca, G; Malvagia, S, 2010) |
| "In this work, we review the clinical and genetic data in 14 Latin American propionic acidemia (PA) and 15 methylmalonic aciduria (MMAuria) patients." | 7.76 | The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. ( Angaroni, C; Cornejo, V; de Kremer, RD; Desviat, LR; Merinero, B; Pérez, B; Pérez-Cerdá, C; Rodríguez-Pombo, P; Sánchez-Alcudia, R; Specola, N; Ugarte, M; Wajner, M, 2010) |
| "Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment." | 5.41 | Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial. ( Ababneh, F; Ahmed, H; Al Mutairi, F; Al Othaim, A; Alasmari, A; Albdah, B; Alfadhel, M; Alfares, A; Aljeraisy, M; Almannai, M; Alohali, L; Alswaid, A; Elamin, M; Eyaid, W; Faqeih, E; Hussein, MA; Nashabat, M; Rahbeeni, Z; Saleh, M; Umair, M, 2021) |
| "There is an unmet need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic acidemia (PA) and methylmalonic acidemia (MMA)." | 5.22 | Biomarkers for drug development in propionic and methylmalonic acidemias. ( Jurecka, A; Longo, N; Sass, JO; Vockley, J, 2022) |
| "Determination of methylmalonic acid (MMA) from dried blood spots (DBS) is commonly performed in clinical diagnostics and newborn screening for propionic acidemia (PA) and methylmalonic acidemia." | 4.31 | Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening. ( Galla, Z; Godejohann, M; Gramer, G; Hoffmann, GF; Janda, J; Klinke, G; Kohlmüller, D; Kölker, S; Monostori, P; Okun, JG; Rácz, G; Szatmári, I; Zsidegh, P, 2023) |
| "Evidence for effectiveness of newborn screening (NBS) for propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is scarce." | 3.96 | Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening? ( Bosch, AM; Brouwers, MCGJ; de Vries, MC; Haijes, HA; Jans, JJM; Janssen, MC; Langendonk, JG; Langeveld, M; Molema, F; Mulder, MF; Rubio-Gozalbo, ME; van der Ploeg, AT; van Hasselt, PM; van Spronsen, F; Verhoeven-Duif, NM; Wagenmakers, MA; Williams, M, 2020) |
| "Pathophysiology of life-threatening acute metabolic decompensations (AMD) in propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is insufficiently understood." | 3.96 | Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach. ( Haijes, HA; Jans, JJM; van der Ham, M; van Hasselt, PM; Verhoeven-Duif, NM, 2020) |
| "Propionic acidemia (PA) and methylmalonic acidemia (MMA) are autosomal recessive disorders of propionyl-CoA (P-CoA) catabolism, which are caused by a deficiency in the enzyme propionyl-CoA carboxylase or the enzyme methylmalonyl-CoA (MM-CoA) mutase, respectively." | 3.96 | Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. ( Armstrong, AJ; Chapman, KA; Collado, MS; Day, N; Figler, RA; Hoang, SA; Olson, M; Reardon, J; Summar, M; Wamhoff, BR, 2020) |
| " We prospectively evaluated plasma MCA and its relationship with disease biomarkers, clinical status, and disease burden in 22 patients, 13 with propionic acidemia (PA) and nine with methylmalonic acidemia (MMA) on standard treatment and/or after transplantation." | 3.96 | Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia. ( Boenzi, S; Candusso, M; Catesini, G; Dello Strologo, L; Dionisi-Vici, C; Liguori, A; Maines, E; Maiorana, A; Martinelli, D; Mosca, A; Olivieri, G; Piemonte, F; Rizzo, C; Spada, M; Taurisano, R, 2020) |
| "Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL)." | 3.85 | Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. ( Baráth, Á; Baumgartner, MR; Fingerhut, R; Gramer, G; Hoffmann, GF; Klinke, G; Kölker, S; Monostori, P; Okun, JG; Richter, S, 2017) |
| "In propionic aciduria and methylmalonic aciduria, hyperammonemia as a symptom of metabolic decompensation is one of the major clinical problems." | 3.76 | N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. ( Donati, MA; Filippi, L; Fiorini, P; Gozzini, E; la Marca, G; Malvagia, S, 2010) |
| "In this work, we review the clinical and genetic data in 14 Latin American propionic acidemia (PA) and 15 methylmalonic aciduria (MMAuria) patients." | 3.76 | The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. ( Angaroni, C; Cornejo, V; de Kremer, RD; Desviat, LR; Merinero, B; Pérez, B; Pérez-Cerdá, C; Rodríguez-Pombo, P; Sánchez-Alcudia, R; Specola, N; Ugarte, M; Wajner, M, 2010) |
| "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) |
| "Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbations and multiorgan pathology." | 3.01 | New insights into the pathophysiology of methylmalonic acidemia. ( Head, PE; Meier, JL; Venditti, CP, 2023) |
| "Clinical trial development in rare diseases poses significant study design and methodology challenges, such as disease heterogeneity and appropriate patient selection, identification and selection of key endpoints, decisions on study duration, choice of control groups, selection of appropriate statistical analyses, and patient recruitment." | 3.01 | Challenges and strategies for clinical trials in propionic and methylmalonic acidemias. ( Burton, B; Ganju, J; Jurecka, A; Leiro, B; Longo, N; Vockley, J; Zori, R, 2023) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 3 (15.00) | 29.6817 |
| 2010's | 5 (25.00) | 24.3611 |
| 2020's | 12 (60.00) | 2.80 |
| Authors | Studies |
|---|---|
| Alfadhel, M | 1 |
| Nashabat, M | 1 |
| Saleh, M | 1 |
| Elamin, M | 1 |
| Alfares, A | 1 |
| Al Othaim, A | 1 |
| Umair, M | 1 |
| Ahmed, H | 1 |
| Ababneh, F | 1 |
| Al Mutairi, F | 1 |
| Eyaid, W | 1 |
| Alswaid, A | 1 |
| Alohali, L | 1 |
| Faqeih, E | 1 |
| Almannai, M | 1 |
| Aljeraisy, M | 1 |
| Albdah, B | 1 |
| Hussein, MA | 1 |
| Rahbeeni, Z | 1 |
| Alasmari, A | 1 |
| Longo, N | 2 |
| Sass, JO | 1 |
| Jurecka, A | 2 |
| Vockley, J | 2 |
| Monostori, P | 2 |
| Godejohann, M | 1 |
| Janda, J | 1 |
| Galla, Z | 1 |
| Rácz, G | 1 |
| Klinke, G | 2 |
| Szatmári, I | 1 |
| Zsidegh, P | 1 |
| Kohlmüller, D | 1 |
| Kölker, S | 2 |
| Hoffmann, GF | 2 |
| Gramer, G | 2 |
| Okun, JG | 2 |
| Sen, K | 1 |
| Burrage, LC | 1 |
| Chapman, KA | 2 |
| Ginevic, I | 1 |
| Mazariegos, GV | 1 |
| Graham, BH | 1 |
| Chakrapani, A | 1 |
| Stojanovic, J | 1 |
| Vara, R | 1 |
| De Nictolis, F | 1 |
| Spada, M | 2 |
| Dionisi-Vici, C | 2 |
| Head, PE | 1 |
| Meier, JL | 1 |
| Venditti, CP | 1 |
| Burton, B | 1 |
| Ganju, J | 1 |
| Leiro, B | 1 |
| Zori, R | 1 |
| Haijes, HA | 2 |
| Molema, F | 1 |
| Langeveld, M | 1 |
| Janssen, MC | 1 |
| Bosch, AM | 1 |
| van Spronsen, F | 1 |
| Mulder, MF | 1 |
| Verhoeven-Duif, NM | 2 |
| Jans, JJM | 2 |
| van der Ploeg, AT | 1 |
| Wagenmakers, MA | 1 |
| Rubio-Gozalbo, ME | 1 |
| Brouwers, MCGJ | 1 |
| de Vries, MC | 1 |
| Langendonk, JG | 1 |
| Williams, M | 1 |
| van Hasselt, PM | 2 |
| van der Ham, M | 1 |
| Collado, MS | 1 |
| Armstrong, AJ | 1 |
| Olson, M | 1 |
| Hoang, SA | 1 |
| Day, N | 1 |
| Summar, M | 1 |
| Reardon, J | 1 |
| Figler, RA | 1 |
| Wamhoff, BR | 1 |
| Maines, E | 1 |
| Catesini, G | 1 |
| Boenzi, S | 1 |
| Mosca, A | 1 |
| Candusso, M | 1 |
| Dello Strologo, L | 1 |
| Martinelli, D | 1 |
| Maiorana, A | 1 |
| Liguori, A | 1 |
| Olivieri, G | 1 |
| Taurisano, R | 1 |
| Piemonte, F | 1 |
| Rizzo, C | 1 |
| Pajares, S | 1 |
| Arranz, JA | 1 |
| Ormazabal, A | 1 |
| Del Toro, M | 1 |
| García-Cazorla, Á | 1 |
| Navarro-Sastre, A | 1 |
| López, RM | 1 |
| Meavilla, SM | 1 |
| de Los Santos, MM | 1 |
| García-Volpe, C | 1 |
| de Aledo-Castillo, JMG | 1 |
| Argudo, A | 1 |
| Marín, JL | 1 |
| Carnicer, C | 1 |
| Artuch, R | 1 |
| Tort, F | 1 |
| Gort, L | 1 |
| Fernández, R | 1 |
| García-Villoria, J | 1 |
| Ribes, A | 1 |
| Richter, S | 1 |
| Baráth, Á | 1 |
| Fingerhut, R | 1 |
| Baumgartner, MR | 1 |
| Abily-Donval, L | 1 |
| Torre, S | 1 |
| Samson, A | 1 |
| Sudrié-Arnaud, B | 1 |
| Acquaviva, C | 2 |
| Guerrot, AM | 1 |
| Benoist, JF | 2 |
| Marret, S | 1 |
| Bekri, S | 1 |
| Tebani, A | 1 |
| Nizon, M | 1 |
| Ottolenghi, C | 1 |
| Valayannopoulos, V | 1 |
| Arnoux, JB | 1 |
| Barbier, V | 1 |
| Habarou, F | 1 |
| Desguerre, I | 1 |
| Boddaert, N | 1 |
| Bonnefont, JP | 1 |
| Rabier, D | 1 |
| Touati, G | 1 |
| de Lonlay, P | 1 |
| Filippi, L | 1 |
| Gozzini, E | 1 |
| Fiorini, P | 1 |
| Malvagia, S | 1 |
| la Marca, G | 1 |
| Donati, MA | 1 |
| Yang, Y | 1 |
| Yao, Z | 1 |
| Song, J | 1 |
| Hasegawa, Y | 1 |
| Kimura, M | 1 |
| Yamaguchi, S | 1 |
| Jiang, Y | 1 |
| Qin, J | 1 |
| Wu, X | 1 |
| Pérez, B | 1 |
| Angaroni, C | 1 |
| Sánchez-Alcudia, R | 1 |
| Merinero, B | 1 |
| Pérez-Cerdá, C | 1 |
| Specola, N | 1 |
| Rodríguez-Pombo, P | 1 |
| Wajner, M | 1 |
| de Kremer, RD | 1 |
| Cornejo, V | 1 |
| Desviat, LR | 1 |
| Ugarte, M | 1 |
| Yano, S | 1 |
| Li, L | 1 |
| Le, TP | 1 |
| Moseley, K | 1 |
| Guedalia, A | 1 |
| Lee, J | 1 |
| Gonzalez, I | 1 |
| Boles, RG | 1 |
| Han, LS | 1 |
| Gao, XL | 1 |
| Ye, J | 1 |
| Qiu, WJ | 1 |
| Gu, XF | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach[NCT04176523] | 75 participants (Anticipated) | Observational | 2019-01-15 | Recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
4 reviews available for methylmalonic acid and Propionic Acidemia
| Article | Year |
|---|---|
Biomarkers for drug development in propionic and methylmalonic acidemias.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Drug Development; Humans; Methylmalonic Acid; Prop | 2022 |
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Kidney Transplantation; Liver Transplantation; Methylm | 2023 |
New insights into the pathophysiology of methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mitochon | 2023 |
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Methylmalonic Acid; Propionic Acidemia; Rare Diseases; | 2023 |
1 trial available for methylmalonic acid and Propionic Acidemia
| Article | Year |
|---|---|
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
Topics: Amino Acid Metabolism, Inborn Errors; Glutamates; Humans; Methylmalonic Acid; Propionic Acidemia; Pr | 2021 |
15 other studies available for methylmalonic acid and Propionic Acidemia
| Article | Year |
|---|---|
Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screenin | 2023 |
Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Topics: Amino Acid Metabolism, Inborn Errors; Genetics, Medical; Genomics; Humans; Methylmalonic Acid; Organ | 2023 |
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Topics: Amino Acid Metabolism, Inborn Errors; Cognition; Female; Humans; Infant, Newborn; Kaplan-Meier Estim | 2020 |
Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach.
Topics: Amino Acid Metabolism, Inborn Errors; Biochemical Phenomena; Humans; Leucine; Methylmalonic Acid; Pr | 2020 |
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Case-Control Studies; Cells, Cultured; Citrates; | 2020 |
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biomarkers; Child; Child, Preschool; Citrates; Fem | 2020 |
Implementation of second-tier tests in newborn screening for the detection of vitamin B
Topics: Homocysteine; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screening; Propionic Acidemia; V | 2021 |
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Liquid; Citrates; Dried Blood Spot Testing; Fe | 2017 |
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Codon, Nonsense; Humans; Male; Methylmalonic | 2017 |
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; La | 2013 |
N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria.
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Ammonia; Emergency Medical Services; Female; Gl | 2010 |
Outcome of organic acidurias in China.
Topics: Child; Child, Preschool; China; Humans; Infant; Infant, Newborn; Metabolic Diseases; Methylmalonic A | 2008 |
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Cell Line; Child; Child, Pres | 2010 |
Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome.
Topics: Carbon-Carbon Ligases; Child, Preschool; DNA, Mitochondrial; Female; Gene Deletion; Humans; Infant; | 2003 |
[Application of tandem mass spectrometry in diagnosis of organic acidemias].
Topics: Adolescent; Child; Child, Preschool; Female; Filtration; Gas Chromatography-Mass Spectrometry; Gluta | 2005 |