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Galactokinase deficiency

(guh-LAK-toh-KIE-nays • di-FISH-uhn-see)

General Condition Information

Other Names

  • Galactosemia

Condition Type

Birth Prevalence

It is unknown how many babies are born with this rare condition each year in the United States.

Screening Finding

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

What is Galactokinase deficiency

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

Your body gets energy to work properly from breaking down galactose found in milk and other foods. Several enzymes break down galactose into substances that your body can either use or remove.

The different types of galactosemia are:

The type your baby has depends on which enzyme is not working properly to break down galactose. 

In galactokinase deficiency, the enzyme that is not working correctly is called GALK. When this enzyme cannot process galactose, undigested sugars build up. These undigested sugars can create cloudy lenses in the eyes (cataracts) and other 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 galactokinase deficiency can have healthy growth and development.

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