carbonyl cyanide p-trifluoromethoxyphenylhydrazone and Pyruvate Dehydrogenase Complex Deficiency Disease

carbonyl cyanide p-trifluoromethoxyphenylhydrazone has been researched along with Pyruvate Dehydrogenase Complex Deficiency Disease in 1 studies

Carbonyl Cyanide p-Trifluoromethoxyphenylhydrazone: A proton ionophore that is commonly used as an uncoupling agent in biochemical studies.
carbonyl cyanide p-trifluoromethoxyphenylhydrazone : A hydrazone that is hydrazonomalononitrile in which one of the hydrazine hydrogens is substituted by a p-trifluoromethoxyphenyl group.

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.

Research

Studies (1)

Authors

Other Studies

1 other study available for carbonyl cyanide p-trifluoromethoxyphenylhydrazone and Pyruvate Dehydrogenase Complex Deficiency Disease