Selective screening for neonatal galactosemia: an alternative approach.
No universal consensus exists for population-based neonatal screening for galactosemia. In our institution, selective screening for classical galactosemia is carried out on infants under 2 wk of age and those with symptoms suggestive of this disorder. Eighteen cases were diagnosed from 25,099 tests done; 17 were symptomatic at the time of diagnosis.


CONCLUSIONS
We suggest that improved clinical vigilance and selective screening would identify most infants with severe galactosemia as early as a population-based program.
Shah
V
V
Division of Neonatology, The Hospital for Sick Children and University of Toronto, Canada.
Friedman
S
S
Moore
A M
AM
Platt
B A
BA
Feigenbaum
A S
AS
D015415:Biomarkers / Q000032:analysis; D002170:Canada / Q000453:epidemiology; D005260:Female; D005693:Galactosemias / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods; D012189:Retrospective Studies; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000032:analysis*
D015415:Biomarkers; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase