Galactokinase Deficiency Inheritance is autosomal recessive. In this disorder, galactose accumulates and is reduced by an alternative pathway to galactitol, resulting in osmotic damage to the lens fibers. Early development of cataracts follows ingestion of galactose or galactose-containing carbohydrate, most commonly lactose. Hepatic and renal damage and neurologic disturbances do not occur. The diagnosis should be suspected in any child with cataracts.
Treatment involves a galactose-free diet.
Classic Galactosemia Inheritance is autosomal recessive. The gene for uridyltransferase, which has many variants, is located on chromosome 9p13. An infant with classic galactosemia appears normal at birth but becomes anorexic and jaundiced within a few days or weeks of consuming breast milk or lactose-containing formula. Vomiting, poor growth, hepatomegaly, and septicemia are common and can be rapidly fatal. Proteinuria, aminoaciduria, and renal Fanconi's syndrome develop, leading to edema and ascites.