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.
Early-onset Krabbe disease appears in the first months of life. Most children with this form of the disease die before they reach age 2.
Late-onset Krabbe disease begins in late childhood or early adolescence.
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.
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.
Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.