MATERNAL ENZYMES OF GALACTOSE METABOLISM AND THE "INEXPLICABLE" INFANTILE CATARACT

Abstract The enzymes galactokinase and galactose-1-phosphate uridyl transferase were measured in erythrocytes from infants and children with unexplained cataracts, their parents, and matched controls. Although these children, as a group, did not show any significantly lower enzyme activity, many of their mothers had noticeably low levels of galactokinase and/or transferase activity. The patterns of distribution of both enzymes in the mothers were statistically different from those of adult women of comparable ages. No such difference could be demonstrated between the children with cataracts, or their fathers, and the control groups. These results are interpreted as strong evidence that marginal maternal deficiency of either or both enzymes, in the face of substantial lactose intake during pregnancy, may contribute to the formation of cataracts during developmental life.