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- W2013111581 abstract "Lactic acidosis and accumulation of 3-hydroxybutyrate 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 1-14C-leucine and 1-14C-valine to 14CO2 and of U-L-14C-valine to its major metabolic product 3-hydroxyisobutyric 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." @default.
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- W2013111581 date "1990-01-01" @default.
- W2013111581 modified "2023-09-25" @default.
- W2013111581 title "Effect of Lipoic Acid in a Patient with Defective Activity of Pyruvate Dehydrogenase, 2-Oxoglutarate Dehydrogenase, and Branched- Chain Keto Acid Dehydrogenase" @default.
- W2013111581 doi "https://doi.org/10.1203/00006450-199001000-00020" @default.
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