Ketonuria, Branched-chain

Mutation of the dihydrolipoate reductase component impairs decarboxylation of branched-chain a-keto acids, of pyruvate, and of a-ketoglutarate. In intermittent branched-chain ketonuria, the a-keto acid decarboxylase retains some activity, and symptoms occur later in life. The impaired enzyme in isovaleric acidemia is isovaleryl-CoA dehydrogenase (reaction 3, Figure 30-19). Vomiting, acidosis, and coma follow ingestion of excess protein. Accumulated... [Pg.259]

The catabolism of leucine, valine, and isoleucine presents many analogies to fatty acid catabolism. Metabolic disorders of branched-chain amino acid catabolism include hypervalinemia, maple syrup urine disease, intermittent branched-chain ketonuria, isovaleric acidemia, and methylmalonic aciduria. [Pg.262]

Dl. Dancis, J., and Levitz, M., Maple syrup urine disease (branched chain ketonuria). In "The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyn-gaarden, and D. S. Fredrickson, eds.), 2nd Ed., pp. 353-365. McGraw-Hill, New York, 1966. [Pg.202]

Greer, M., and Williams, C. M. Diagnosis of Branched-Chain Ketonuria... [Pg.97]

MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETONURIA) 235... [Pg.235]

Greer, M. and Williams, C.M. (1967), Diagnosis of branched-chain ketonuria (Maple syrup urine disease) by gas chromatography. Biochem. Med., 1,87. [Pg.143]

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