Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis

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Science  21 Mar 1975:
Vol. 187, Issue 4181, pp. 1082-1084
DOI: 10.1126/science.803713


A complete deficiency in the pyruvate dehydrogenase system activity contributed to the death of a 6-month-old infant with congenital lactic acidosis. The enzymatic block could be isolated to the first component, pyruvate decarboxylase (E1) of the pyruvate dehydrogenase complex. This enzymatic deficiency allowed a demonstration of an "intercomplex" exchange of the components of the mammalian pyruvate dehydrogenase system and indicated that the first component is normally present in an apparent excess.