Galactoepimerase deficiency (GALE)

 

Galactoepimerase deficiency (GALE) is one type of galactosemia. GALE is an inherited condition in which the body is unable to properly break down galactose, a sugar found in all foods that contain milk and in some fruits and vegetables. This condition can cause harmful amounts of undigested sugars to build up in the blood. There are three forms of GALE (generalized, peripheral, and intermediate). Some of these forms are more severe, while others are milder. Severe forms of GALE can lead to eye problems (cataracts), delayed growth and development, intellectual disabilities, liver disease, kidney problems, or even death. When GALE is identified through newborn screening and proper treatment is started early, children with GALE can often lead healthy lives.

This condition is also known as: GALE deficiency, galactose epimerase deficiency, galactosemia type III, UDP-galactose-4-epimerase deficiency.

To learn more about Galactoepimerase deficiency, visit Baby's First Test: Galactoepimerase deficiency. Visit Board Certified Metabolic Providers (PDF: 2 pages/204KB) for a listing of medical specialists and clinic contact information.