title: Untreated classical galactosemia patient with mild 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.
authors.affiliation: Department of Pediatrics, University Hospital Maastricht, Maastricht, The Netherlands.
authors.forename: Bianca
authors.initials: B
authors.lastname: Panis
authors.forename: Jaap A
authors.initials: JA
authors.lastname: Bakker
authors.forename: Jean-Pierre J E
authors.initials: JP
authors.lastname: Sels
authors.forename: Leo J M
authors.initials: LJ
authors.lastname: Spaapen
authors.forename: Luc J C
authors.initials: LJ
authors.lastname: van Loon
authors.forename: M Estela
authors.initials: ME
authors.lastname: Rubio-Gozalbo
mesh_terms: D000328:Adult; D002247:Carbon Isotopes; D005690:Galactose / Q000378:metabolism; D005693:Galactosemias / Q000473:pathology*; D006801:Humans; D008297:Male; D010084:Oxidation-Reduction; D010641:Phenotype
chemical_list: D002247:Carbon Isotopes; D005690:Galactose