Red blood cell sorbitol dehydrogenase deficiency in a family with cataracts.
Sorbitol dehydrogenase (SORD) was quantitatively assayed in a family in which four out of five brothers and their father had bilateral cataracts. Three sibs (two of them with cataracts) and both their father and paternal grandfather had SORD activity of about 25% of the reference values; of the other two affected sibs one had about 50% and the other had 75%; the mother and two paternal uncles had about 75%. These results do not define a clear cataract-SORD deficiency etiopathogenic relationship, nevertheless, they strongly suggest activity polymorphism in human red cell SORD, which would be highly relevant not only to the study of cataracts but of other major complications in diabetes.
D002386:Cataract / Q000201:enzymology / Q000235:genetics*; D048909:Diabetes Complications; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005686:Galactokinase / Q000378:metabolism; D006801:Humans; D007064:L-Iditol 2-Dehydrogenase / Q000172:deficiency* / Q000378:metabolism; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D013401:Sugar Alcohol Dehydrogenases / Q000172:deficiency*; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000378:metabolism
D013401:Sugar Alcohol Dehydrogenases; D007064:L-Iditol 2-Dehydrogenase; D005686:Galactokinase; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase