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Alternative NamesGloboid 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 damages the central nervous system. It can cause:
The disease is usually life threatening.
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.
References Return to top
Vanier M. Disorders of sphingolipid metabolism. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY:Springer; 2006:chap 38.Update Date: 4/15/2009 Updated by: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.