methylmalonic acid has been researched along with Mitochondrial Diseases 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.
Mitochondrial Diseases: Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
| 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 Mitochondrial Diseases
| 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 |