Direct and maternal aspects of the risk of cataract with partial disorders of galactose metabolism.
Partial deficiencies of the enzymes of galactose metabolism can be associated with cataract, both directly and through maternal effects during pregnancy on enzymatically normal children. However, the associations are modest, variable and not obviously expressing cause and effect. We have recorded ophthalmological and biochemical observations including oral galactose tolerance on families with established enzyme deficiencies and/or cataracts, including possible effects during pregnancy. With the partial disorders a simple relationship between the extent of biochemical abnormality and the risk of cataract is not apparent and the association may be substantially coincidental. Cataract is common, and the attractive possibility that expression is significantly due to heterozygous or lesser deficiency of the enzymes of galactose metabolism, amenable to early dietary control of children or mothers at risk, is on present evidence not well supported.
D000293:Adolescent; D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D002386:Cataract / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005686:Galactokinase / Q000172:deficiency / Q000235:genetics; D005690:Galactose / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008431:Maternal-Fetal Exchange; D011247:Pregnancy; D012306:Risk; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency / Q000235:genetics
D005686:Galactokinase; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005690:Galactose