Publication

Zeer late herkenning van klassieke galactosemie: Een volwassene met een bijzondere biochemie

Weits-Binnerts, J. J., Hordijk, R., Smit, G. P. A., van der Veer, E., Reijngoud, D. J. & Berger, R., Oct-1993, In : Tijdschrift voor Kindergeneeskunde. 61, 5, p. 188-190 3 p.

Research output: Contribution to journalArticleAcademicpeer-review

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.

Translated title of the contributionLate diagnosis of classical galactosemia. An adult with special biochemistry
Original languageDutch
Pages (from-to)188-190
Number of pages3
JournalTijdschrift voor Kindergeneeskunde
Volume61
Issue number5
Publication statusPublished - Oct-1993

    Keywords

  • Adult, Erythrocytes, Galactosemias, Humans, Intellectual Disability, Male, UTP-Hexose-1-Phosphate Uridylyltransferase

ID: 14985832