thioctic acid has been researched along with Leigh Disease in 1 studies
Thioctic Acid: An octanoic acid bridged with two sulfurs so that it is sometimes also called a pentanoic acid in some naming schemes. It is biosynthesized by cleavage of LINOLEIC ACID and is a coenzyme of oxoglutarate dehydrogenase (KETOGLUTARATE DEHYDROGENASE COMPLEX). It is used in DIETARY SUPPLEMENTS.
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 | 0 (0.00) | 29.6817 |
| 2010's | 1 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Soreze, Y | 1 |
| Boutron, A | 1 |
| Habarou, F | 1 |
| Barnerias, C | 1 |
| Nonnenmacher, L | 1 |
| Delpech, H | 1 |
| Mamoune, A | 1 |
| Chrétien, D | 1 |
| Hubert, L | 1 |
| Bole-Feysot, C | 1 |
| Nitschke, P | 1 |
| Correia, I | 1 |
| Sardet, C | 1 |
| Boddaert, N | 1 |
| Hamel, Y | 1 |
| Delahodde, A | 1 |
| Ottolenghi, C | 1 |
| de Lonlay, P | 1 |
1 other study available for thioctic acid and Leigh Disease
| Article | Year |
|---|---|
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Topics: Acyltransferases; Amino Acids; Carrier Proteins; Cells, Cultured; Fibroblasts; Humans; Immunoblottin | 2013 |