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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
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Overview

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

References

  1. Krabbe disease. Genetics Home Reference (GHR). March 2007; http://www.ghr.nlm.nih.gov/condition/krabbe-disease. Accessed 7/21/2011.
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Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Krabbe leukodystrophy. Click on the link to view a sample search on this topic.

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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.