Untreated classical galactosemia patient with mild phenotype

Mol Genet Metab. 2006 Nov;89(3):277-9. doi: 10.1016/j.ymgme.2006.03.002. Epub 2006 Apr 18.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Carbon Isotopes
  • Galactose / metabolism
  • Galactosemias / pathology*
  • Humans
  • Male
  • Oxidation-Reduction
  • Phenotype*

Substances

  • Carbon Isotopes
  • Galactose