[Late diagnosis of classical galactosemia. An adult with special biochemistry].
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.
Weits-Binnerts
J J
JJ
Observatie-afdeling Hendrik van Boeijen-Oord, Assen.
Hordijk
R
R
Smit
G P
GP
van der Veer
E
E
Reijngoud
D J
DJ
Berger
R
R
D000328:Adult; D004912:Erythrocytes / Q000201:enzymology; D005693:Galactosemias / Q000150:complications / Q000201:enzymology*; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology*; D008297:Male; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood*
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase
Zeer late herkenning van klassieke galactosemie. Een volwassene met een bijzondere biochemie.