Immunochemical analysis of pyruvate dehydrogenase complex in 2 boys with primary lactic acidemia

We examined the pyruvate dehydrogenase (PDH) complex using bio- and immunochemical methods with cultured cells derived from 2 boys with mental retardation, ataxia, and primary lactic acidemia due to partial deficiency in the PDH complex. We found a defect in dephosphorylation and the subsequent activation of the E1 alpha subunit of the enzyme.