Cataracts and Galactokinase Deficiency

Abstract

To the Editor: Cataracts characteristically develop in human beings with severe deficiencies of one of the first two enzymes of galactose metabolism, galactokinase and galactose-lphosphate uridyl transferase. A deficiency of the latter enzyme produces classic galactosemia. In addition to cataracts, jaundice, splenomegaly, and failure to thrive develop in children with this disorder. They usually come to the attention of hospital pediatricians in the first few months of life.The other defect of galactose metabolism, galactokinase deficiency, has a more insidious onset. Persons with a total lack of galactokinase may have cataracts but otherwise enjoy good health. The defect leading to . . .