Effect of lipoic acid in a patient with defective activity of pyruvate dehydrogenase, 2-oxoglutarate dehydrogenase, and branched-chain keto acid dehydrogenase

I. Yoshida, L. Sweetman, S. Kulovich, W. L. Nyhan, B. H. Robinson

Research output: Contribution to journalArticlepeer-review

Abstract

Lactic acidosis and accumulation of 3-hy-droxybutyrate and other citric acid cycle intermediates were found in an infant with a lethal syndrome of metabolic acidosis and renal tubular acidosis. Nevertheless, the patient was relatively well for 4 mo of life. The activity of the pyruvate dehydrogenase complex, 2-oxoglutarate dehydrogenase, and branched-chain keto acid dehydrogenase were all reduced to levels 9 to 29% of control. In contrast, the activity of lipoamide dehydrogenase was normal. The conversion of l-14C-leucine and l-I4C-valine to 14C02 and of U-L-I4C-valine to its major metabolic product 3-hydrox-yisobutyric acid by fibroblasts derived from the patient was less than 5% of control. Cultivation of the patient's fibroblasts in medium enriched with lipoic acid markedly improved these in vitro conversions of leucine and valine.

Original languageEnglish (US)
Pages (from-to)75-79
Number of pages5
JournalPediatric Research
Volume27
Issue number1
DOIs
StatePublished - Jan 1990
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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