Maple-Syrup-Urine Disease

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Abstract
To the Editor: Maple-syrup-urine disease is a disorder of the branched-chain amino acids leucine, isoleucine, and valine and is characterized by neonatal onset of lethargy, seizures, and metabolic acidosis. On the basis of prospective studies of infants at risk for maple-syrup-urine disease, DiGeorge et al. (Dec. 9, 1982, issue)1 and Wendel et al. (May 5, 1983, issue)2 reported that all of four affected infants had significantly increased plasma leucine concentrations by 24 hours of age, regardless of feeding. My colleagues and I have learned from our recent experience with one such infant that not all infants with maple-syrup-urine disease have . . .

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