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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]
References
- Krabbe disease. Genetics Home Reference (GHR). http://www.ghr.nlm.nih.gov/condition/krabbe-disease. Accessed July 21, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center2 question(s) from the public on Krabbe leukodystrophy have been answered. See questions and answers. You can also submit a new question.
General Information
- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
- Genetics Home Reference (GHR) contains information on Krabbe leukodystrophy. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Krabbe leukodystrophy. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Escolar, et al. A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. Pediatrics 2006;118:e879-e889.
Insurance Issues
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.