描述
Pyruvate Decarboxylase E1 Component Deficiency is caused by a defect in the PDHA1 gene which codes for mitochondrial pyruvate dehydrogenase E1 component subunit alpha, somatic form. This is a homotetrameric enzyme that catalyses the decarboxylation of pyruvic acid to acetaldehyde and carbon dioxide. A defect in this enzyme results in accumulation of lacate and pyruvate. Symptoms and signs include severe lactic acidosis in the newborns that usually leading to death, hypotonic, lethargic, seizures, mental retardation and spasticity.