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Science 21 March 1975:
Vol. 187. no. 4181, pp. 1082 - 1084
DOI: 10.1126/science.803713
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Articles

Science, Vol 187, Issue 4181, 1082-1084
Copyright © 1975 by American Association for the Advancement of Science

articles

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

DF Farrell, AF Clark, CR Scott, and RP Wennberg

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.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
In Utero Central Nervous System Damage in Pyruvate Dehydrogenase Deficiency.
K. A. Aleck, A. M. Kaplan, W. G. Sherwood, and B. H. Robinson (1988)
Arch Neurol 45, 987-989
   Abstract »    PDF »
Ocular Findings in Childhood Lactic Acidosis.
S. Hayasaka, K. Yamaguchi, K. Mizuno, S. Miyabayashi, K. Narisawa, and K. Tada (1986)
Arch Ophthalmol 104, 1656-1658
   Abstract »    PDF »
Pyruvate Decarboxylase Deficiency in Subacute Necrotizing Encephalomyelopathy.
O. B. Evans (1981)
Arch Neurol 38, 515-519
   Abstract »    PDF »
Mitral Valve Prolapse and Ophthalmoplegia: A Progressive, Cardioneurologic Syndrome.
J. R. DARSEE, C. L. MIKLOZEK, S. B. HEYMSFIELD, L. C. HOPKINS Jr., and N. K. WENGER (1980)
Ann Intern Med 92, 735-741
   Abstract »    PDF »
Fluorometric Determination of Pyruvate and {alpha}-Ketoglutarate in Cerebrospinal Fluid and Plasma of Infants and Children: A Simple Test That Screens for Metabolic Disorders.
J. H. Thurston, R. E. Hauhart, J. L. Seltzer, and D. B. McDougal Jr (1976)
Arch Neurol 33, 764-768
   Abstract »    PDF »


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