See Also: pyruvate dehydrogenase complex deficiency(medicine)
pyruvate dehydrogenase complex(medicine)
pyruvate dehydrogenase complex inactivase(medicine)
pyruvate kinase deficiency(medicine)
pyruvate carboxylase deficiency(medicine)
pyruvate dehydrogenase(medicine)
pyruvate dehydrogenase (lipoamide)(medicine)
pyruvate dehydrogenase (cytochrome)(medicine)
(pyruvate dehydrogenase (lipoamide))kinase(medicine)
pyruvate dehydrogenase (lipoamide)-phosphatase(medicine)

pyruvate dehydrogenase complex deficiency (medicine)


pyruvate dehydrogenase complex deficiency


An autosomal recessive pyruvate metabolism disorder resulting from deficient enzyme activity in one of several proteins of pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA. Deficiency in acetyl CoA product reduces the synthesis of acetylcholine, thereby causing neurological abnormalities. Clinical presentations include lactic acidosis, mental retardation, and ataxia.