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