title: [Late diagnosis of classical galactosemia. An adult with special biochemistry].
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.
authors.affiliation: Observatie-afdeling Hendrik van Boeijen-Oord, Assen.
authors.forename: J J
authors.initials: JJ
authors.lastname: Weits-Binnerts
authors.forename: R
authors.initials: R
authors.lastname: Hordijk
authors.forename: G P
authors.initials: GP
authors.lastname: Smit
authors.forename: E
authors.initials: E
authors.lastname: van der Veer
authors.forename: D J
authors.initials: DJ
authors.lastname: Reijngoud
authors.forename: R
authors.initials: R
authors.lastname: Berger
mesh_terms: 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*
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase
vernacular_title: Zeer late herkenning van klassieke galactosemie. Een volwassene met een bijzondere biochemie.