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Updated: Aug 9, 2026

Measuring Lactase Enzymatic Activity in the Teaching Lab
Published on: August 6, 2018
Untreated classical galactosemia patient with mild phenotype
Bianca Panis1, Jaap A Bakker, Jean-Pierre J E Sels
1Department of Pediatrics, University Hospital Maastricht, Maastricht, The Netherlands.
Abstract:
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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