methylmalonic acid has been researched along with Encephalomyopathies, Mitochondrial in 6 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.
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (33.33) | 29.6817 |
| 2010's | 4 (66.67) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Liu, Z | 1 |
| Fang, F | 1 |
| Ding, C | 1 |
| Wu, H | 1 |
| Lyu, J | 1 |
| Wu, Y | 1 |
| Carrozzo, R | 2 |
| 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 | 2 |
| Ravn, K | 1 |
| Joensen, F | 1 |
| Cordelli, DM | 1 |
| Santorelli, FM | 2 |
| Tulinius, M | 1 |
| Darin, N | 1 |
| Duno, M | 2 |
| Jouvencel, P | 1 |
| Burlina, A | 1 |
| Stangoni, G | 1 |
| Bertini, E | 2 |
| Redonnet-Vernhet, I | 1 |
| Wibrand, F | 2 |
| Dionisi-Vici, C | 2 |
| Uusimaa, J | 1 |
| Vieira, P | 1 |
| Osorio, AN | 1 |
| McFarland, R | 1 |
| Taylor, RW | 1 |
| Holme, E | 2 |
| Ostergaard, E | 4 |
| Schwartz, M | 2 |
| Christensen, E | 2 |
| Hjalmarson, O | 1 |
| Kollberg, G | 1 |
| Rouzier, C | 1 |
| Le Guédard-Méreuze, S | 1 |
| Fragaki, K | 1 |
| Serre, V | 1 |
| Miro, J | 1 |
| Tuffery-Giraud, S | 1 |
| Chaussenot, A | 1 |
| Bannwarth, S | 1 |
| Caruba, C | 1 |
| Pellissier, JF | 1 |
| Richelme, C | 1 |
| Espil, C | 1 |
| Chabrol, B | 1 |
| Paquis-Flucklinger, V | 1 |
| Hansen, FJ | 1 |
| Sorensen, N | 1 |
| Vissing, J | 1 |
| Larsen, PL | 1 |
| Faeroe, O | 1 |
| Thorgrimsson, S | 1 |
| Steuerwald, U | 1 |
| Lucioli, S | 1 |
| Deodato, F | 1 |
| Di Giandomenico, S | 1 |
| Franke, B | 1 |
| Kluijtmans, LA | 1 |
| Meschini, MC | 1 |
| Rizzo, C | 1 |
| Piemonte, F | 1 |
| Rodenburg, R | 1 |
| Santer, R | 1 |
| van Rooij, A | 1 |
| Vermunt-de Koning, D | 1 |
| Morava, E | 1 |
| Wevers, RA | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect[NCT01793090] | Phase 2 | 30 participants (Actual) | Interventional | 2013-01-31 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
1 review available for methylmalonic acid and Encephalomyopathies, Mitochondrial
| Article | Year |
|---|---|
[SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].
Topics: Carnitine; Child; DNA, Mitochondrial; Dystonia; Europe; Female; Homozygote; Humans; Magnetic Resonan | 2014 |
5 other studies available for methylmalonic acid and Encephalomyopathies, Mitochondrial
| Article | Year |
|---|---|
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 |
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
Topics: Brain; DNA Mutational Analysis; DNA, Mitochondrial; Follow-Up Studies; Gene Frequency; Humans; Infan | 2010 |
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.
Topics: Amino Acid Sequence; Child; Fatal Outcome; Humans; Infant; Male; Methylmalonic Acid; Mitochondrial E | 2010 |
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
Topics: Adolescent; Adult; Atlantic Islands; Child; Child, Preschool; DNA Mutational Analysis; DNA, Mitochon | 2007 |
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Topics: Atlantic Islands; Brain; Carnitine; Deafness; DNA Mutational Analysis; DNA, Mitochondrial; Family He | 2007 |