methylmalonic acid has been researched along with Encephalomyelitis, Subacute Necrotizing in 3 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 (66.67) | 29.6817 |
| 2010's | 1 (33.33) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ostergaard, E | 1 |
| Schwartz, M | 1 |
| Batbayli, M | 1 |
| Christensen, E | 1 |
| Hjalmarson, O | 1 |
| Kollberg, G | 1 |
| Holme, E | 1 |
| Ito, H | 1 |
| Mori, K | 1 |
| Ito, M | 1 |
| Naito, E | 1 |
| Yokota, I | 1 |
| Kuroda, Y | 1 |
| Carrozzo, R | 1 |
| Dionisi-Vici, C | 1 |
| Steuerwald, U | 1 |
| Lucioli, S | 1 |
| Deodato, F | 1 |
| Di Giandomenico, S | 1 |
| Bertini, E | 1 |
| Franke, B | 1 |
| Kluijtmans, LA | 1 |
| Meschini, MC | 1 |
| Rizzo, C | 1 |
| Piemonte, F | 1 |
| Rodenburg, R | 1 |
| Santer, R | 1 |
| Santorelli, FM | 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] | |||||||
3 other studies available for methylmalonic acid and Encephalomyelitis, Subacute Necrotizing
| Article | Year |
|---|---|
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 |
[Case of methylmalonic acidemia presenting clinically Leigh encephalopathy].
Topics: Brain; Humans; Infant; Leigh Disease; Magnetic Resonance Imaging; Male; Methylmalonic Acid; Methylma | 2004 |
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 |