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Start Over Author "Wunsch C" Journal human genetics
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2. Red blood cell sorbitol dehydrogenase deficiency in a family with cataracts

Author

J. M. Cantú, D. García-Cruz, C. Medina, José Sánchez-Corona, Vaca G, M. Bracamontes, G. Gonzalez‐Quiroga, Wunsch C, and Bertha Ibarra

Subjects
Male, medicine.medical_specialty, L-Iditol 2-Dehydrogenase, Erythrocytes, genetic structures, Sorbitol dehydrogenase, Biology, Cataract, Diabetes Complications, Galactokinase, Cataracts, Polymorphism (computer science), Internal medicine, Diabetes mellitus, Genetics, medicine, Humans, UTP-Hexose-1-Phosphate Uridylyltransferase, Genetics (clinical), Polymorphism, Genetic, Red Cell, Paternal grandfather, medicine.disease, eye diseases, Bilateral Cataracts, Pedigree, Red blood cell, medicine.anatomical_structure, Endocrinology, Female, Sugar Alcohol Dehydrogenases
Abstract

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.

Published
1982

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