thiamine thiothiazolone pyrophosphate has been researched along with Pyruvate Dehydrogenase Complex Deficiency Disease in 1 studies
*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. [MeSH]
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (100.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Korotchkina, LG; Patel, MS; Tripatara, A | 1 |
1 other study(ies) available for thiamine thiothiazolone pyrophosphate and Pyruvate Dehydrogenase Complex Deficiency Disease
| Article | Year |
|---|---|
Characterization of point mutations in patients with pyruvate dehydrogenase deficiency: role of methionine-181, proline-188, and arginine-349 in the alpha subunit.
Topics: 2,6-Dichloroindophenol; Acetylation; Acetyltransferases; Amino Acid Substitution; Apoenzymes; Arginine; Binding Sites; Circular Dichroism; Dihydrolipoyllysine-Residue Acetyltransferase; Enzyme Stability; Humans; Kinetics; Methionine; Point Mutation; Proline; Protein Structure, Secondary; Pyruvate Dehydrogenase Complex; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvic Acid; Recombinant Proteins; Thermodynamics; Thiamine Pyrophosphate | 1999 |