Gene:
dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)
Description:
Dihydrolipoyl dehydrogenase is a component of the mitochondrial pyruvate and alpha-ketoglutarate dehydrogenase complexes. Defects in the enzyme cause congenital infantile lactic acidosis