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Krabbe disease

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Alternative Names   

Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiency

Definition    Return to top

Krabbe disease is a rare genetic disorder of the nervous system. It is a type of leukodystrophy.

Causes    Return to top

A defect in the GALC gene causes Krabbe disease. Persons with this gene defect do not make enough of a substance called galactocerebroside beta-galactosidase (galactosylceramidase). The body needs this substance to make myelin, the material that surrounds and protects nerve fibers. Without it, myelin breaks down, brain cells die, and nerves in the brain and other body areas do not work properly.

There are two forms of Krabbe disease.

Krabbe disease is inherited, which means that it runs in families. To get this disease, each of your parents must pass you a copy of the faulty GALC gene. (See: Autosomal recessive pattern)

This condition is very rare. It is most common among people of Scandinavian descent.

Symptoms    Return to top

Early-onset Krabbe disease:

Late-onset Krabbe disease:

Vision problems may appear first, followed by walking difficulties and rigid muscles. Symptoms vary from person to person. Other symptoms may occur.

Exams and Tests    Return to top

An exam of the retina in the eye may show damage to the optic nerve. There may be signs or deafness and abnormal posturing in the late stages of the disorder.

Tests that may be done include:

Treatment    Return to top

There is no specific treatment for Krabbe disease.

Some people have had a bone marrow transplant in the early stages of the disease, but this treatment has risks.

Support Groups    Return to top

United Leukodystrophy Foundation -- www.ulf.org

Outlook (Prognosis)    Return to top

The outcome is likely to be poor. On average, infants with early-onset cases die before age 2. People who develop the disease at a later age have survived into adulthood with nervous system disease.

Possible Complications    Return to top

This disease leads to progressive damage to the central nervous system. It can cause blindness, deafness, and severe problems with muscle tone. The disease is usually deadly.

When to Contact a Medical Professional    Return to top

Call your health care provider if your child develops symptoms of this disorder. Seizures, loss of consciousness, or abnormal posturing may be emergency symptoms.

Prevention    Return to top

Genetic counseling is recommended for persons with a family history of Krabbe disease who are considering having children.

A blood test can be done to see if you carry the gene for Krabbe disease.

Prenatal tests (amniocentesis or chorionic villus sampling) can be done to screen a developing baby for this condition.

Update Date: 5/22/2007

Updated by: Brian Kirmse, M.D., Department of Human Genetics, Mount Sinai School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.

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