thioctic acid has been researched along with Pyruvate Dehydrogenase Complex Deficiency Disease in 5 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.
Pyruvate Dehydrogenase Complex Deficiency Disease: An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
| Excerpt | Relevance | Reference |
|---|---|---|
| "PDHc deficiency was demonstrated in muscle and fibroblasts without detectable PDHA1 mutations." | 1.36 | Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain. ( Briones, P; Font, A; Pineda, M; Quintana, E; Ribes, A; Tort, F; Vilaseca, MA, 2010) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (40.00) | 18.7374 |
| 1990's | 1 (20.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 2 (40.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Sperl, W | 1 |
| Fleuren, L | 1 |
| Freisinger, P | 1 |
| Haack, TB | 1 |
| Ribes, A | 2 |
| Feichtinger, RG | 1 |
| Rodenburg, RJ | 1 |
| Zimmermann, FA | 1 |
| Koch, J | 1 |
| Rivera, I | 1 |
| Prokisch, H | 1 |
| Smeitink, JA | 1 |
| Mayr, JA | 1 |
| Quintana, E | 1 |
| Pineda, M | 1 |
| Font, A | 1 |
| Vilaseca, MA | 1 |
| Tort, F | 1 |
| Briones, P | 1 |
| Kodama, S | 1 |
| Yagi, R | 1 |
| Ninomiya, M | 1 |
| Goji, K | 1 |
| Takahashi, T | 1 |
| Morishita, Y | 1 |
| Matsuo, T | 1 |
| Yoshida, I | 1 |
| Sweetman, L | 1 |
| Kulovich, S | 1 |
| Nyhan, WL | 1 |
| Robinson, BH | 1 |
| Byrd, DJ | 1 |
| Krohn, HP | 1 |
| Winkler, L | 1 |
| Steinborn, C | 1 |
| Hadam, M | 1 |
| Brodehl, J | 1 |
| Hunneman, DH | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Phase 3 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:[NCT02616484] | Phase 3 | 34 participants (Actual) | Interventional | 2020-07-14 | Active, not recruiting | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
1 review available for thioctic acid and Pyruvate Dehydrogenase Complex Deficiency Disease
| Article | Year |
|---|---|
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
Topics: Energy Metabolism; Female; Humans; Iron-Sulfur Proteins; Male; Oxidation-Reduction; Pyruvate Dehydro | 2015 |
4 other studies available for thioctic acid and Pyruvate Dehydrogenase Complex Deficiency Disease
| Article | Year |
|---|---|
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
Topics: Acidosis, Lactic; Adult; Amino Acid Sequence; Base Sequence; Biomarkers; Blepharoptosis; Cells, Cult | 2010 |
The effect of a high fat diet on pyruvate decarboxylase deficiency without central nervous system involvement.
Topics: Carboxy-Lyases; Child; Dietary Fats; Electroencephalography; Fatigue; Fibroblasts; Humans; Male; Phy | 1983 |
Effect of lipoic acid in a patient with defective activity of pyruvate dehydrogenase, 2-oxoglutarate dehydrogenase, and branched-chain keto acid dehydrogenase.
Topics: 3-Hydroxybutyric Acid; 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Acidosis, Lactic; Acidosis | 1990 |
Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia.
Topics: Acidosis, Lactic; Ammonia; Female; Humans; Infant, Newborn; Pyruvate Dehydrogenase Complex Deficienc | 1989 |