Galactosemia. A genetic study of four generations by enzyme assay.
Suggestive evidence indicates that galactosemia is a simple, recessively inherited abnormality; however, the genetics of this condition have not been studied.
Abstract
Galactosemia is a hereditary metabolic disease, which may be manifested in infancy by failure to grow, hepatosplenomegaly, mental and motor retardation, cataracts, jaundice, vomiting, and sometimes death. The clinical syndrome has been described elsewhere in detail. 1-6 The specific enzymatic defect in galactosemia has been identified. 7,8 Once grouped with glycogen storage disease of von Gierke as an error of glycogen metabolism, 9 galactosemia now is recognized as a distinct inborn error of metabolism due to the deficiency of galactose-1-phosphate-uridyl-transferase in erythrocytes 7,8 and in liver tissue. 10 Patients with von Gierke's disease have a specific defect in carbohydrate metabolism due to deficiency of glucose-6-phosphatase in the liver but have normal galactose metabolism. 11 The four reactions involved in the intermediary metabolism of galactose are shown in Figure 1. Suggestive evidence indicates that galactosemia is a simple, recessively inherited abnormality; however, the genetics of this condition have not been studied