Inexplicable infantile cataracts and partial maternal galactose disorder

Abstract

Previous reports have suggested that partial maternal deficiency of galactose metabolising enzymes, particularly of galactokinase activity, could contribute to the formation of cataracts during developmental life, even in a fetus that is enzymatically normal. We have assayed erythrocyte galactokinase and uridyltransferase activities in 12 families with children suffering early onset cataracts. We did not observe any abnormality of galactose metabolising enzymes in either the mothers or the infants. Furthermore, we have looked for the occurrence of cataracts among children of seven mothers heterozygous for one of these two deficiencies. No children with enzyme activity in the normal or heterozygous range had cataracts.