Untreated classical galactosemia patient with mild phenotype

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 de...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2006-11, Vol.89 (3), p.277-279
Main Authors: Panis, Bianca, Bakker, Jaap A., Sels, Jean-Pierre J.E., Spaapen, Leo J.M., van Loon, Luc J.C., Rubio-Gozalbo, M. Estela
Format: Article
Language:English
Subjects:
Adult
Carbon Isotopes
Classical galactosemia
Galactose - metabolism
Galactose oxidation
Galactosemias - pathology
Humans
Male
Mild phenotype
Oxidation-Reduction
Phenotype
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Summary: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.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2006.03.002