Untreated classical galactosemia patient with mild phenotype

B. Panis, J.A. Bakker, J.P.J.E. Sels, L.J. Spaapen, L.J. van Loon, M.E. Rubio-Gozalbo*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

17 Citations (Web of Science)


Despite life-long galactose restriction, long-term complications generally occur in classical galactosemia. We report an adult male with classical galactosemia (Q188R homozygosity, severely reduced erythrocyte galactose-1-phosphate uridyltransferase activity) who has a surprisingly mild phenotype despite genotype and enzyme activity associated with severe phenotype. Moreover he has a normal galactose intake from the age of 3 years. This case is probably an example of the important role of yet unknown susceptibility and or modifier genes.
Original languageEnglish
Pages (from-to)277-279
JournalMolecular Genetics and Metabolism
Issue number3
Publication statusPublished - 1 Jan 2006

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