Krabbe Disease

Information and facts about Eponymous diseases.

Krabbe disease is a degenerative disorder that affects the central and peripheral nervous system. This condition is inherited in an autosomal recessive pattern. Worldwide, Krabbe disease occurs in about 1 in 100,000 to 200,000 births. A higher incidence (6 cases per 1,000 live births) has been reported in a few isolated communities in Israel.

Krabbe disease is caused by mutations in the GALC gene, which causes a shortage (deficiency) of an enzyme called galactosylceramidase (GALC). This enzyme deficiency results in a shortage of myelin, the covering that insulates many nerves. Krabbe disease is considered part of a group of disorders known as leukodystrophies, which result from the imperfect growth and development of myelin.

Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, inexplicable crying, fevers, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. There are also juvenile- and adult-onset cases of Krabbe disease, which have similar symptoms but slower progression.

Although there is no cure for Krabbe disease, bone marrow transplantation has been shown to benefit mild cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation. Science News reported in its May 21, 2005 issue that umbilical cord blood transplants have been successful in stopping the disease as long as they are given before overt symptoms appear.

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