1. Untreated classical galactosemia patient with mild phenotype.
- Author
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Panis B, Bakker JA, Sels JP, Spaapen LJ, van Loon LJ, and Rubio-Gozalbo ME
- Subjects
- Adult, Carbon Isotopes, Galactose metabolism, Humans, Male, Oxidation-Reduction, Galactosemias pathology, Phenotype
- 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.
- Published
- 2006
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