Maple Syrup Urine Disease

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Abstract
A case of maple syrup urine disease, with survival to 15 months, is presented. The urine contained high concentrations of leucine, isoleucine and valine, and of their respective keto acids, but other possible intermediates in the further degradation of these amino acids were not detected. The presence of the [alpha]-hydroxy acid derivatives of the keto acids was confirmed. A block in the metabolism of the three amino acids at the stage of oxidative decarboxylation is suggested by these results, but a direct demonstration of this was prevented by the instability of the enzyme systems in storage. Some indications of a more general failure of oxidative decarboxylation were observed, and the possible significance of this and the other anomalies is discussed.