Other Names for this Disease
- Galactocerebrosidase deficiency
- Galactosylceramidase deficiency
- Galactosylceramide beta-galactosidase deficiency
- GALC deficiency
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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.Krabbe leukodystrophy is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called
Last updated: 7/27/2011
- Krabbe disease. Genetics Home Reference (GHR). March 2007; http://www.ghr.nlm.nih.gov/condition/krabbe-disease. Accessed 7/21/2011.
- Genetics Home Reference (GHR) contains information on Krabbe disease. This website is maintained by the National Library of Medicine.
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- 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.
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- 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 disease. Click on the link to view a sample search on this topic.