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Genetic and Rare Diseases Information Center (GARD)

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Canavan disease

Other Names for this Disease
  • ACY2 deficiency
  • Aminoacylase 2 deficiency
  • ASP deficiency
  • ASPA deficiency
  • Aspartoacylase deficiency
More Names
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Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain.[1] This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the fatty covering that insulates nerve fibers.[1][2] Canavan disease is caused by mutations in the ASPA gene and is inherited in an autosomal recessive pattern.[1][3] While it occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage, and among Saudi Arabians.[1][2][3]
Last updated: 7/21/2009


  1. Canavan disease. Genetics Home Reference (GHR). 2008; Accessed 7/21/2009.
  2. NINDS Canavan Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2008; Accessed 7/21/2009.
  3. Haldeman- Englert C. Canavan disease. MedlinePlus. 2008; Accessed 7/21/2009.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Canavan disease. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Canavan disease. Click on the link to view a sample search on this topic.

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