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Mol Genet Metab. 2006 Nov;89(3):277-9. Epub 2006 Apr 18.

Untreated classical galactosemia patient with mild phenotype.

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  • 1Department of Pediatrics, University Hospital Maastricht, Maastricht, The Netherlands.


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.

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