Krabbe disease

Alternative Names

Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiency

Definition of Krabbe disease

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

Causes, incidence, and risk factors

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).

Symptoms

Early-onset Krabbe disease:

Signs and tests

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.

Treatment

There is no specific treatment for Krabbe disease.

Expectations (prognosis)

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.

Review

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. – 4/15/2009

ADAM Medical Encyclopedia

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