malic acid has been researched along with Leigh Disease in 5 studies
malic acid : A 2-hydroxydicarboxylic acid that is succinic acid in which one of the hydrogens attached to a carbon is replaced by a hydroxy group.
2-hydroxydicarboxylic acid : Any dicarboxylic acid carrying a hydroxy group on the carbon atom at position alpha to the carboxy 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).
| Excerpt | Relevance | Reference |
|---|---|---|
| "We studied a 17-year-old girl with subacute necrotizing encephalomyelopathy (Leigh syndrome)." | 1.27 | Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver. ( Den Hartog, MR; Fischer, JC; Gabreëls, FJ; Janssen, AJ; Renier, WO; Ruitenbeek, W; Slooff, JL; Trijbels, JM; Van Erven, PM, 1985) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (40.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (20.00) | 29.6817 |
| 2010's | 2 (40.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Iannetti, EF | 1 |
| Smeitink, JAM | 1 |
| Willems, PHGM | 1 |
| Beyrath, J | 1 |
| Koopman, WJH | 1 |
| Kayser, EB | 1 |
| Sedensky, MM | 1 |
| Morgan, PG | 1 |
| Chretien, D | 1 |
| Bénit, P | 1 |
| Chol, M | 1 |
| Lebon, S | 1 |
| Rötig, A | 1 |
| Munnich, A | 1 |
| Rustin, P | 1 |
| van Erven, PM | 2 |
| Gabreëls, FJ | 2 |
| Ruitenbeek, W | 2 |
| Renier, WO | 2 |
| Lamers, KJ | 1 |
| Sloof, JL | 1 |
| Den Hartog, MR | 1 |
| Fischer, JC | 1 |
| Trijbels, JM | 1 |
| Slooff, JL | 1 |
| Janssen, AJ | 1 |
5 other studies available for malic acid and Leigh Disease
| Article | Year |
|---|---|
Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD
Topics: Adenosine Triphosphate; Aspartic Acid; Cell Death; Culture Media; Electron Transport Complex I; Fibr | 2018 |
Region-Specific Defects of Respiratory Capacities in the Ndufs4(KO) Mouse Brain.
Topics: Animals; Brain Stem; Cell Respiration; Cerebellum; Disease Models, Animal; Electron Transport Comple | 2016 |
Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts.
Topics: Cells, Cultured; Electron Transport Complex I; Fibroblasts; Glutamic Acid; Humans; Leigh Disease; Ly | 2003 |
Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain.
Topics: Adolescent; Adult; Brain; Brain Diseases, Metabolic; Female; Humans; Lactates; Leigh Disease; Malate | 1987 |
Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver.
Topics: Adolescent; Brain; Brain Diseases, Metabolic; Enzymes; Female; Humans; Ketoglutaric Acids; Lactates; | 1985 |