methylmalonic acid has been researched along with Leigh Disease 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.
Leigh Disease: A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
| 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 Leigh Disease
| 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 |