Maple-Syrup-Urine Disease

Abstract

To the Editor: DiGeorge et al.¹ (Dec. 9 issue) found that 24 hours after birth newborns with classic maple-syrup-urine disease had an essentially increased and diagnostically relevant plasma leucine concentration, regardless of feeding. Since all the infants under study (Mennonites) presumably had an identical gene mutation, additional data on newborns with maple-syrup-urine disease from other populations would be helpful in confirming these findings.We obtained similar data in an infant of an Italian consanguineous couple. A sibling had been treated by us because of classic maple-syrup-urine disease. During pregnancy the mother had refused prenatal diagnosis. The female newborn at risk . . .