Topic Page: Galactosemia

Galactosemia is a rare autosomal recessive disorder due to a deficiency of galactose-1-P:uridyl transferase (GALT) (classical galactosemia), galactokinase (GALK), or UDP-galactose-4 epimerase (GALE). Of the three, GALT deficiency is the most severe and results in the accumulation of galactose-1-P in tissues, which damages the liver, eye, brain, ovary, and kidney. In GALK deficiency, ingested galactose may be converted into galactitol, which can cause cataract. Most patients with GALE deficiency have no clinical symptoms, but a minority have symptoms similar to classical galactosemia.