PEDIATRICS Vol. 58 No. 4 October 1976, pp. 564-572
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Lactic Acidosis in Three Sibs Due to Defects in Both Pyruvate Dehydrogenase and agr-Ketoglutarate Dehydrogenase Complexes

J. C. Haworth M.D.1, Thomas L. Perry M.D.1, John P. Blass M.D.1, Shirley Hansen B.A.1, and Nadine Urquhart Ph.D.1

1 Department of Pediatrics, University of Manitoba, Winnipeg, Canada, the Department of Pharmacology, University of British, Columbia, Vancouver, Canada, and the Mental Retardation Center, University of California, Los Angeles

A Canadian Indian family is described in which three of the children were mentally retarded, and had seizures and other neurological abnormalities. They had chronic metabolic acidosis associated with elevated blood levels of lactate, pyruvate, and alanine. Two of the children excreted large amounts of pyruvic and agr-ketoglutaric acids in the urine and had elevated plasma levels of glutamic acid and proline. Hypoglycemia occurred with fasting in two of the children. Treatment with pharmacological doses of thiamine, lipoic acid, biotin, riboflavin, and various dietary regimes was without effect. One child died at 3frac12 months and another at 4frac12 months; the third is still alive at 23 months of age. Enzyme assays revealed a low level of activity of both the pyruvate and agr-ketoglutarate dehydrogenase complexes in cultured fibroblasts of one of the sibs. These patients appeared to have partial defects in the oxidation of pyruvate, as well as of agr-ketoglutarate within the tricarboxylic acid cycle.

Submitted on September 29, 1975
Accepted on December 23, 1975




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