Urine screening of five-day-old newborns: metabolic profiling of neonatal galactosuria

We determined urinary galactose and 4-hydroxyphenyllactic acid (4HPLA) in 4 338 of 5-day-old newborns using a newly developed GC-MS screening method. F ifty-two infants were chemically diagnosed as having transient galactosuria based upon elevated urinary galactose levels (4.78-30.53 mg/mg creatinine, control 1.10+/-0.89 mg/mg creatinine). These infants did not excrete galac titol or galactonic acid into the urine, which is typical of hereditary gal actosemia, Nearly 40% of the transient galactosuria was associated with imm ature infants (low birth weight or borne before 37 gestational weeks). Imma ture hepatic function is one explanation for neonatal transient galactosuri a, but heterozygotes or the carriers of galactose degradation enzyme defici encies were also suspected in some of the newborns, judging from the compar isons of urinary galactose and 4HPLA excretion between neonates and patient s with galactosemia. (C) 1999 Elsevier Science B.V. All rights reserved.