Cataracts in patients heterozygous for galactokinase deficiency.
The role of heterozygous galactokinase deficiency in the development of presenile cataracts is presently undetermined. Erythrocyte galactokinase activity was measured from 95 normal Caucasian subjects and from 39 Caucasian patients who had developed idiopathic bilateral cataracts between ages 20 and 55. The diagnosis of heterozygous galactokinase deficiency was based on the following criteria: galactokinase activity more than 2.0 SD below the control population mean; when available, familial evidence for heterozygous galactokinase activity was used as additional evidence. Three of 39 patients (1/13) with cataracts were found to be carriers of the galactokinase deficiency allele (P less than 0.001). Two heterozygotes had high dietary galactose intake suggesting a possible relationship between a high galactose diet and cataract formation. Dietary information was unavailable for the third heterozygote. We conclude that there is a high prevalence of heterozygous galactokinase deficiency existing in patients less than 55 yr of age with cataracts, and recommend that adults at risk restrict their consumption of dairy products.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002386:Cataract / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D004032:Diet; D005260:Female; D005686:Galactokinase / Q000172:deficiency*; D005690:Galactose; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged
D005686:Galactokinase; D005690:Galactose