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Krabbe disease

Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroy brain cells. Krabbe disease, also known as globoid cell leukodystrophy, is characterized by globoid cells (cells that have more than one nucleus) that break down the nerve's protective myelin coating.

Krabbe disease is caused by a defect in the GALC gene, leading to malfunction of galactocerebrosidase, an essential enzyme for myelin metabolism, and consequent accumulation of a toxic myelin breakdown product. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include:

  • Severe deterioration of mental and motor skills
  • Muscle weakness
  • Hypertonia (a muscle's inability to stretch)
  • Myoclonic seizures (sudden, shock-like contractions of the limbs)
  • Spasticity (involuntary and awkward movement)
  • Unexplained fever
  • Blindness
  • Difficulty with swallowing
  • Deafness

No specific treatment for Krabbe disease has been developed. Generally, treatment for the disorder is symptomatic and supportive. In infants the disorder is generally fatal before age 2. Individuals with a later onset form of the disease generally have a milder course of the disease and live significantly longer.

How can I or my loved one help improve care for people with Krabbe disease?

Krabbe disease is considered rare, which often means there is not much information known about it. This is usually the case because doctors and researchers do not see many people with the disorder, which makes it hard to learn from them through observations or large studies.

Consider participating in a clinical trial so clinicians and scientists can learn more about Krabbe disease and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Krabbe disease at

Where can I find more information about Krabbe disease?

Information about Krabbe disease may be available from the following organizations and resources:

Genetic and Rare Diseases (GARD) Information Center

Hunter's Hope Foundation
Phone: 716-667-1200; 877-984-4673


National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673

Content source: Accessed June 23, 2023.

The information in this document is for general educational purposes only. It is not intended to substitute for personalized professional advice. Although the information was obtained from sources believed to be reliable, MedLink, its representatives, and the providers of the information do not guarantee its accuracy and disclaim responsibility for adverse consequences resulting from its use. For further information, consult a physician and the organization referred to herein.

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