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- W2048144133 abstract "ABSTRACT. A 6 month-old girl with vomiting, hypotonia and motor retardation was found to have elevated blood lactate, pyruvate, and branched chain amino acids essociated with ketoglutaric aciduria. The combination of a congenital lactic acidosis with a variant form of maple syrup urine disease and ketoglutaric aciduria suggested a defect of a single component, common to pyruvate dehydrogenase, to branched chain ketoacid dehydrogenase, and to α-ketoglutarate dehydrogenase. Dihydrolipoyl dehydrogenase is the common component (E3). The three enzyme activities and the E3 component activity were found to be reduced in liver and cultured fibroblasts, thus confirming that a single defect of this component can result in a multiple deflciency involving several oxidative decarboxylation reactions." @default.
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- W2048144133 date "1982-01-01" @default.
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- W2048144133 title "CONGENITAL LACTIC ACIDOSIS, α-KETOGLUTARIC ACIDURIA AND VARIANT FORM OF MAPLE SYRUP URINE DISEASE DUE TO A SINGLE ENZYME DEFECT: DIHYDROLIPOYL DEHYDROGENASE DEFICIENCY" @default.
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- W2048144133 doi "https://doi.org/10.1111/j.1651-2227.1982.tb09393.x" @default.
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