Absence of Pyruvate Decarboxylase Activity in Man: A Cause of Congenital Lactic Acidosis

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 (E$_{1}$) of the pyruvate dehydrogenase complex. This enzymatic d...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 1975-03, Vol.187 (4181), p.1082-1084
Main Authors: Farrell, Donald F., Clark, Arthur F., Scott, C. Ronald, Wennberg, Richard P.
Format: Article
Language:English
Subjects:
Acidosis - congenital
Acidosis - enzymology
Acidosis - metabolism
Amino acids
Brain - enzymology
Carbohydrate metabolism
Carboxy-Lyases - deficiency
Carboxy-Lyases - metabolism
Coenzymes
Dehydrogenases
Enzymes
Fetus
Humans
Infant, Newborn
Lactates - metabolism
Lactic acidosis
Liver
Liver - enzymology
Male
Neurophysins
Pyruvate Dehydrogenase Complex - metabolism
Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvates
Sudden infant death syndrome
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Summary: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 (E$_{1}$) 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.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.803713