Krabbe disease is a rare genetic disorder of the nervous system. It is a type of brain disease called leukodystrophy.
Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiency
A defect in the GALC gene causes Krabbe disease. People with this gene defect do not make enough of a substance (enzyme) called galactocerebroside beta-galactosidase (galactosylceramidase).
The body needs this enzyme to make myelin. Myelin surrounds and protects nerve fibers. Without this enzyme, myelin breaks down, brain cells die, and nerves in the brain and other body areas do not work properly.
Krabbe disease can develop at various ages:
Krabbe disease is inherited, which means it is passed down through families. If both parents carry the nonworking copy of the gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease. It is an autosomal recessive disorder.
This condition is very rare. It is most common among people of Scandinavian descent.
Symptoms of early-onset Krabbe disease are:
With 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 also occur.
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.
These resources can provide more information about Krabbe disease:
The outcome is likely to be poor. On average, infants with early-onset Krabbe disease die before age 2. People who develop the disease at a later age have survived into adulthood with nervous system disease.
This disease damages the central nervous system. It can cause:
The disease is usually life-threatening.
Contact your provider if your child develops symptoms of this disorder. Go to the hospital emergency room or call your local emergency number (such as 911) if the following symptoms occur:
Genetic counseling is recommended for people 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 test a developing baby for this condition.
Grabowski GA, Burrow TA, Leslie ND, Prada CE. Lysosomal storage diseases. In: Orkin SH, Fisher DE, Ginsburg D, Look AT, Lux SE, Nathan DG, eds. Nathan and Oski's Hematology and Oncology of Infancy and Childhood. 8th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 25.
Pastores GM, Wang RY. Lysosomal storage diseases. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Principles and Practice. 6th ed. Philadelphia, PA: Elsevier; 2017:chap 41.