Intermittent Branched-Chain Ketonuria

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Abstract
MAPLE-syrup-urine disease (branched-chain ketonuria) is a genetic disorder with a well defined biochemical defect.1 Symptoms of anorexia, vomiting, hypertonicity and occasionally convulsions appear during the first week of life. The clinically diagnostic feature is a maple-syrup odor to the urine. Early death is frequent. If the patient survives, and is not treated with an appropriate diet, severe and permanent neurologic damage rapidly occurs. The fundamental defect, easily demonstrable in the peripheral leukocytes,2 is an inability to metabolize the branched-chain keto acids. As a result, these keto acids and their respective amino acids – leucine, isoleucine, and valine – are elevated . . .

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