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.
Most female patients have ovarian failure.
Treatment involves eliminating all sources of galactose in the diet, most notably lactose, which is present in all dairy products and as a sweetener in many foods. Many patients require supplemental Ca and vitamins. Inheritance is autosomal recessive for both forms. No incidence data are available for the more severe form. The benign form appears to be restricted to RBCs and WBCs, without significant clinical abnormalities.