Absence of Pyruvate Decarboxylase Activity in Man: A Cause of Congenital Lactic Acidosis
- 21 March 1975
- journal article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 187 (4181) , 1082-1084
- https://doi.org/10.1126/science.803713
Abstract
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.Keywords
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