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...

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Bibliographic Details
Published in:European journal of pediatrics 1995-01, Vol.154 (7 Suppl 2), p.S40-S44
Main Authors: Gitzelmann, R, Bosshard, N U
Format: Article
Language:English
Subjects:
Galactosemias - diagnosis
Galactosemias - diet therapy
Heterozygote
Humans
Infant, Newborn
Neonatal Screening
UTP-Hexose-1-Phosphate Uridylyltransferase - deficiency
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Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF02143802