Galactose Epimerase Deficiency

Epimerase Deficiency Galactosemia, UDPglucose-4-epimerase deficiency, Type 3 galactosemia, Galactoepimerase deficiency


Type of disease: Rare Condition or Disease

Galactoepimerase deficiency (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. It occurs most often in African American populations with 1 out of every 6,700 newborns diagnosed with GALE. It is less common in other ethnic groups, affecting about 1 in 70,000 European individuals.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. However, when GALE is identified through newborn screening and proper treatment is started early, affected children can often lead healthy lives. Treatment for GALE depends on the severity and type, but may include a diet that avoids foods which contain galactose, such as milk. Many babies are screened to see if they may be affected by GALE at birth, but the conditions included in newborn screening vary by state by state. For more information, visit Baby’s First Test.

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