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Krabbe disease

krab-AY • disease

General Condition Information

Other Names

  • Globoid cell leukodystrophy (Krabbe disease)
  • Krabbe
  • Krabbe leukodystrophy

Condition Type

Birth Prevalence

  • It is estimated that approximately 40 babies are born with this rare condition each year in the United States.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

Decreased GALC enzyme activity with or without elevated psychosine and with or without presence of pathogenic variants in the GALC gene

What is Krabbe disease

Krabbe disease is an inherited (genetic) condition that prevents the body from recycling galactolipids. Krabbe disease is named for the first doctor to describe the condition.

Galactolipids are important for cells in the body to work properly, but when they can’t be recycled, they start to build up. High levels of galactolipids destroy the protective covering of nerve cells called myelin.

The enzyme galactosylceramidase (GALC) breaks down galactolipids to help provide energy. This process takes place in lysosomes, the recycling compartments in your cells.

Krabbe disease develops when GALC enzyme activity decreases. This makes it harder for lysosomes to break down galactolipids. Two galactolipids, galactosylceramide and psychosine, build up. This buildup destroys myelin and prevents nerve signals from traveling throughout the body. This damage leads to the signs and symptoms of the condition.

There are two types of Krabbe disease that differ in signs and symptoms and age of onset:

  • Early infantile Krabbe disease
  • Later-onset Krabbe disease

It is not yet fully known why a person develops one type of Krabbe disease over the other.

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 try to address the health problems caused by this condition.

Treatments may include the following:

Children who receive early and ongoing treatment for Krabbe disease may live longer and have fewer health issues.

Date Last Reviewed: