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Galactoepimerase deficiency

(guh-LAK-toh-ehp-i-muhr-ays • di-FISH-uhn-see)

General Condition Information

Other Names

  • Galactose Epimerase deficiency
  • Galactosemia

Condition Type

Birth Prevalence

  • The number of babies born with this rare condition each year is unknown. 
  • It may be more common in African American babies.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

Increased total galactose with normal galactose-1-phosphate uridylyltransferase (GALT) enzyme activity

What is Galactoepimerase deficiency

Galactoepimerase deficiency is one type of an inherited (genetic) condition also called galactosemia. Galactosemia prevents the body from breaking down a sugar called galactose correctly. 

The body gets energy from breaking down galactose in milk and other foods. Several enzymes break down galactose into other substances that your body can use or remove. Galactosemia develops when one of these enzymes does not work properly. 

The different types of galactosemia are:

The type your baby has depends on which enzyme is not breaking down galactose properly.

Galactoepimerase deficiency is the least common type of galactosemia. In this type of galactosemia, the enzyme that is not working correctly is called GALE.

There are three different forms of galactoepimerase deficiency. The forms differ by how well the GALE enzyme processes galactose. 

  • Generalized: Can process very little galactose. Symptoms appear after consuming milk products. 
  • Intermediate: Can process some galactose. Symptoms may not appear right away but usually require treatment to prevent long-term symptoms. 
  • Peripheral: Can process enough galactose and usually do not have symptoms. Treatment is often just monitoring. 

Unprocessed galactose builds up in the body and causes damage. If untreated, this damage can cause the signs and symptoms of the condition.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.

Treatments may include the following:

  • Avoidance of foods that contain galactose and lactose
  • Avoidance of all dairy products
  • Special foods and formulas
  • Vitamin supplements (calcium, vitamin K, vitamin D)

Children who receive early and ongoing treatment for galactoepimerase deficiency can have healthy growth and development. Some children with the generalized form of galactoepimerase deficiency who receive treatment early may still show delays in learning and development.

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