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Genetic and Rare Diseases Information Center (GARD)

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Krabbe leukodystrophy


Other Names for this Disease

  • Galactocerebrosidase deficiency
  • Galactosylceramide beta-galactosidase deficiency
  • GALC deficiency
  • GCL
  • GLD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My little baby has Krabbe leukodystrophy. Here in Italy, doctors give us no chance. Can you help us?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Krabbe leukodystrophy?

Krabbe leukodystrophy is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase (GALC). This enzyme deficiency results in defective 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. Krabbe disease usually begins before the age of 1 year (early-onset form). Initial signs and symptoms often include feeding difficulties, episodes of unexplained fever, stiff posture, and developmental delay. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and intellectual disability. Less commonly, onset can occur later in childhood, adolescence, or adulthood (late-onset form). Krabbe disease is caused by mutations in the GALC gene and is inherited in an autosomal recessive pattern.[1]
Last updated: 7/27/2011

What is the prognosis for Krabbe leukodystrophy?

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 with a slower rate of progression and live significantly longer. Symptoms and signs of the juvenile and adult forms of the disease include spasticity, dementia, ataxia, peripheral neuropathy, and loss of vision.[2][3] 
Last updated: 4/11/2014

How might Krabbe leukodystrophy be treated?

There is no cure for Krabbe leukodystrophy. 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 received 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.[2]
Last updated: 3/16/2014

How can I learn about treatment research Krabbe leukodystrophy?

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Currently, there are 2 clinical trials that are investigating treatments for Krabbe leukodystrophy. You can find more information about these studies by clicking on the links below. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study‚Äôs contact information to learn more. Check this site often for regular updates.

Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders (NCT01043640). Masonic Cancer Center, University of Minnesota

HSCT for High Risk Inherited Inborn Errors (NCT00383448). Masonic Cancer Center, University of Minnesota

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH) by calling 800-411-1222 to speak with a specialist, who can help you determine if you are eligible for any clinical trials.

Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases Research (ORDR), part of the National Institutes of Health.
http://rarediseases.info.nih.gov/Resources.aspx?PageID=8
Last updated: 7/27/2011

References
Other Names for this Disease
  • Galactocerebrosidase deficiency
  • Galactosylceramide beta-galactosidase deficiency
  • GALC deficiency
  • GCL
  • GLD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.