methylmalonic acid has been researched along with Electron Transport Chain Deficiencies, Mitochondrial in 8 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 |
|---|---|---|
| "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) |
| "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) |
| "Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of the mitochondrial enzyme, methylmalonyl-CoA mutase (MCM)." | 1.48 | TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells. ( Erlich-Hadad, T; Feldman, A; Greif, H; Hadad, R; Lictenstein, M; Lorberboum-Galski, H, 2018) |
| "Mild methylmalonic aciduria was detected by elevated urine methylmalonic acid and blood propionylcarnitine at the age of 6 months to 2 years and 8 months." | 1.43 | [Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria]. ( Ding, Y; Li, DX; Li, XY; Liu, YP; Qin, YP; Song, JQ; Wang, Q; Yang, YL; Zhang, Y, 2016) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 3 (37.50) | 29.6817 |
| 2010's | 3 (37.50) | 24.3611 |
| 2020's | 2 (25.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ramon, C | 1 |
| Traversi, F | 1 |
| Bürer, C | 1 |
| Froese, DS | 1 |
| Stelling, J | 1 |
| Haijes, HA | 1 |
| Molema, F | 1 |
| Langeveld, M | 1 |
| Janssen, MC | 1 |
| Bosch, AM | 1 |
| van Spronsen, F | 1 |
| Mulder, MF | 1 |
| Verhoeven-Duif, NM | 1 |
| Jans, JJM | 1 |
| 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 | 1 |
| Erlich-Hadad, T | 1 |
| Hadad, R | 1 |
| Feldman, A | 1 |
| Greif, H | 1 |
| Lictenstein, M | 1 |
| Lorberboum-Galski, H | 1 |
| Carrozzo, R | 1 |
| Verrigni, D | 1 |
| Rasmussen, M | 1 |
| de Coo, R | 1 |
| Amartino, H | 1 |
| Bianchi, M | 1 |
| Buhas, D | 1 |
| Mesli, S | 1 |
| Naess, K | 1 |
| Born, AP | 1 |
| Woldseth, B | 1 |
| Prontera, P | 1 |
| Batbayli, M | 1 |
| Ravn, K | 1 |
| Joensen, F | 1 |
| Cordelli, DM | 1 |
| Santorelli, FM | 1 |
| Tulinius, M | 1 |
| Darin, N | 1 |
| Duno, M | 1 |
| Jouvencel, P | 1 |
| Burlina, A | 1 |
| Stangoni, G | 1 |
| Bertini, E | 1 |
| Redonnet-Vernhet, I | 1 |
| Wibrand, F | 2 |
| Dionisi-Vici, C | 1 |
| Uusimaa, J | 1 |
| Vieira, P | 1 |
| Osorio, AN | 1 |
| McFarland, R | 1 |
| Taylor, RW | 1 |
| Holme, E | 1 |
| Ostergaard, E | 1 |
| Liu, YP | 1 |
| Li, XY | 1 |
| Ding, Y | 1 |
| Wang, Q | 1 |
| Song, JQ | 1 |
| Zhang, Y | 1 |
| Li, DX | 1 |
| Qin, YP | 1 |
| Yang, YL | 1 |
| Kölker, S | 1 |
| Schwab, M | 1 |
| Hörster, F | 1 |
| Sauer, S | 1 |
| Hinz, A | 1 |
| Wolf, NI | 1 |
| Mayatepek, E | 1 |
| Hoffmann, GF | 1 |
| Smeitink, JA | 1 |
| Okun, JG | 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 |
| Østergaard, E | 1 |
| Ørngreen, MC | 1 |
| Vissing, J | 1 |
| Horn, N | 1 |
8 other studies available for methylmalonic acid and Electron Transport Chain Deficiencies, Mitochondrial
| Article | Year |
|---|---|
Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; HEK293 Cells; Humans; Methylmalonic Acid; Methylmalonyl-CoA Mu | 2023 |
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 |
TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells.
Topics: Adenosine Triphosphate; Amino Acid Metabolism, Inborn Errors; CRISPR-Cas Systems; Escherichia coli; | 2018 |
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Child; Child, Preschoo | 2016 |
[Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Asian People; Carnitine; Diagnosis, Differential; DNA Mutation | 2016 |
Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain.
Topics: Acyl Coenzyme A; Adenosine Triphosphate; Aging; Amino Acid Metabolism, Inborn Errors; Animals; Cattl | 2003 |
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 |
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 |