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

Galactoepimerase deficiency (GALE)

Galactoepimerase deficiency (GALE) is a rare, inherited metabolic condition. There are different forms of galactosemia, with different causes and health effects. In this form of galactosemia, an enzyme, UDP-galactose 4'-epimerase (GALE), in the body is not working well. There are different forms of galactoepimerase deficiency: generalized, peripheral, and intermediate. Health effects can differ for the different forms of galactoepimerase deficiency.

Condition-specific information and resources are available in English and Spanish on the Baby's First Test website:

Galactoepimerase deficiency (GALE)