Partial galactose disorders in families with premature cataracts.
Minor and major deficiencies of enzymes affecting galactose metabolism may be associated with cataracts of early onset. Results are presented for 10 such families with minor enzymatic disorders. Expression of the major disorders probably involves galactitol accumulation and osmotic lens damage but this mechanism is not obviously associated with minor disorders. The observed incidence of minor incomplete enzymatic disorders of galactose metabolism in families with an incidence of cataracts of early onset may be at least partly incidental.
D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000201:enzymology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004361:Drug Tolerance; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005686:Galactokinase / Q000172:deficiency; D005690:Galactose / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D011248:Pregnancy Complications / Q000178:diet therapy; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency
D005686:Galactokinase; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005690:Galactose