Partial deficiency of galactose-1-phosphate uridyltransferase.
Eur J Pediatr
; 154(7 Suppl 2): S40-4, 1995.
Article
em En
| MEDLINE
| ID: mdl-7671963
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
UTP-Hexose-1-Fosfato Uridililtransferase
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Newborn
Idioma:
En
Revista:
Eur J Pediatr
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Suíça