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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.

Overview

What is Krabbe leukodystrophy?

How is Krabbe leukodystrophy inherited?

How might Krabbe leukodystrophy be treated?

What is the prognosis for Krabbe leukodystrophy?

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

How is Krabbe leukodystrophy inherited?

Krabbe leukodystrophy is inherited in an autosomal recessive manner. If both parents are carriers (each having one working copy of the gene and one non-working copy), each child that they have has a 25% chance (1 in 4) of being affected (having the condition), a 50% chance (1 in 2) of being an asymptomatic carrier (like each parent), and a 25% chance of being unaffected (not having the condition) and also not being a carrier. If a sibling of a child with Krabbe leukodystrophy is already known to be unaffected, the chance of him/her being a carrier is 2/3.[2]
Last updated: 11/23/2010

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.[3]
Last updated: 3/16/2014

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.[3][4] 
Last updated: 4/11/2014

References
  1. Krabbe disease. Genetics Home Reference (GHR). March 2007; http://www.ghr.nlm.nih.gov/condition/krabbe-disease. Accessed 7/21/2011.
  2. David A Wenger. Krabbe disease. GeneReviews. August 5, 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=krabbe. Accessed 11/23/2010.
  3. NINDS Krabbe Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). June 2011; http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm. Accessed 7/21/2011.
  4. N P S Bajaj, A Waldman, R Orrell et al. Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging. J Neurol Neurosurg Psychiatry. November 8, 2001; 72(5):635-638. http://jnnp.bmj.com/content/72/5/635.full. Accessed 4/11/2014.


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.