Galactoepimerase deficiency (GALE) - Diseases and Conditions Identified in Children

Galactoepimerase deficiency (GALE)


Galactoepimerase deficiency (GALE) is an inborn error of metabolism, an inherited condition in which an enzyme, UDP-galactose 4’-epimerase, in the body is either missing or not working well. GALE deficiency is just one type of galactosemia. Different types of galactosemia have different causes and health effects. When this enzyme is not working well, the body is unable to break down a sugar (called galactose) properly and it builds up in the body. Galactose is a sugar found in milk and all foods that contain milk, some other types of foods and even some medications. Galactose is also made by a person’s own body. There are three forms of GALE deficiency (generalized, peripheral, and intermediate). There can be different health effects and management needs depending on the form of GALE deficiency. Support groups are available to help connect families living with a form of galactosemia with others who have experience or expertise with this or similar conditions.

To learn more about Galactoepimerase deficiency, visit Baby's First Test: Galactoepimerase deficiency. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.