Partial deficiency of galactose-1-phosphate uridyltransferase.
In screening programmes testing newborns for galactose-1-phosphate uridyltransferase and/or galactose, partial enzyme deficiency is frequently discovered. This is shown for one laboratory in Switzerland where 104 newborns were singled out from a total of 476,000. Of these, 72 had partial transferase deficiency below 9 mumol/h per g Hb and were assumed to be compound heterozygotes for "classical" galactosemia and the Duarte variant. Present day management of compound heterozygotes consisting of lactose-free diet for 4 months is described and discussed in the light of published opinion. The appropiateness of this pragmatic approach can at present not be judged according to objective criteria.
Gitzelmann
R
R
Department of Pediatrics, University of Zürich, Switzerland.
Bosshard
N U
NU
D005693:Galactosemias / Q000175:diagnosis / Q000178:diet therapy; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency*
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase