Krabbe Disease (Globoid Cell Leukodystrophy)

Overview

What is Krabbe Disease?

Krabbe disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems. It is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerve’s protective myelin coating, and destruction of brain cells. Krabbe disease is one of a group of genetic disorders called the leukodystrophies. These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe deterioration of mental and motor skills. Myelin, which lends its color to the “white matter” of the brain, is a complex substance made up of at least 10 different enzymes. Each of the leukodystrophies affects one (and only one) of these substances. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development.  Other symptoms include muscle weakness, spasticity, deafness, and blindness.

Is there any treatment?

There is no cure for Krabbe disease. Results of a very small clinical trial of patients with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. Results also showed that disease progression stabilized faster in patients who receive cord blood compared to those who receive adult bone marrow. 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.

What is the prognosis?

Infantile Krabbe disease is generally fatal before age 2. Prognosis may be significantly better for children who receive umbilical cord blood stem cells prior to disease onset or early bone marrow transplantation. Persons with juvenile- or adult-onset cases of Krabbe disease generally have a milder course of the disease and live significantly longer.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research on the lipid storage diseases in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country.

Resources

Organizations

United Leukodystrophy Foundation

2304 Highland Drive

Sycamore, IL 60178

Phone: 815.895.3211

Toll-free: 800.728.5483

Fax: 815.895.2432

Email: [email protected]

Website: www.ulf.org

Hunter's Hope Foundation (A Leukodystrophy Resource)

P.O. Box 643

Orchard Park, NY 14127

Phone: 716.667.1200

Toll-free: 877.984-HOPE (4673)

Fax: 716.667.1212

Email: [email protected]

Website: www.huntershope.org

National Organization for Rare Disorders (NORD)

55 Kenosia Avenue

Danbury, CT 06810

Phone: 203.744.0100

Voice Mail: 800.999.NORD (6673)

Fax: 203.798.2291

Email: [email protected]

Website: www.rarediseases.org

Myelin Project

P.O. Box 39

Pacific Palisades, CA 90272

Phone: 310.459.1071

oll-free: 800.869.3546

Fax: 310.230.4298

Email: [email protected]

Website: http://www.myelin.org

*Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke *

Reviewed by a Cleveland Clinic medical professional.

Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy