Branched-Chain α-Keto Acids for the Diagnosis of Maple-Syrup-Urine Disease

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Abstract
To the Editor: The importance of early identification of neonates with maple-syrup-urine disease is well recognized. In this disorder, the branched-chain amino acids are transaminated to their α-keto acids, but further metabolism is deficient because of impaired oxidative decarboxylation of the α-keto acids. Until now the diagnosis has been made from measurements of plasma levels of the branched-chain amino acids, particularly leucine. We propose that, since α-keto acids are the substrates of the deficient decarboxylation reaction, early detection may best be accomplished by measuring plasma branched-chain α-keto acids, using high-pressure liquid chromatography. The following report supports this hypothesis.A female . . .

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