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[Late diagnosis of classical galactosemia. An adult with special biochemistry].

Authors :
Weits-Binnerts JJ
Hordijk R
Smit GP
van der Veer E
Reijngoud DJ
Berger R
Source :
Tijdschrift voor kindergeneeskunde [Tijdschr Kindergeneeskd] 1993 Oct; Vol. 61 (5), pp. 188-90.
Publication Year :
1993

Abstract

The atypical case history of a galactosemic patient who was not recognized as such until his 22nd year is described. As in classical galactosemia there was not found any galactose-1-phosphate uridyl transferase activity in the erythrocytes. However, after the patient was on a galactose-free diet, there was no demonstrable elevation of galactose-1-phosphate in the erythrocytes. We would advocate a limited screening on galactosemia.

Details

Language :
Dutch; Flemish
ISSN :
0376-7442
Volume :
61
Issue :
5
Database :
MEDLINE
Journal :
Tijdschrift voor kindergeneeskunde
Publication Type :
Academic Journal
Accession number :
8266315