Ashkenazi Disorders: Mendelian

Canavan Disease

Canavan disease is caused by a deficiency of an enzyme called aspartoacylase (ASA). Most children with this disorder appear normal at birth, but lack of this enzyme affects the brain and results in progressive deterioration of the affected child. The disease is life shortening with death typically occurring in the first or second decade of life. No effective treatment is available for this condition at this time.

 

Disease frequency:1 in 5,000 in the Jewish population
Carrier frequency:1 in 38 in the Jewish population.
Diagnosis:Made by detecting lack of enzyme aspartoacylase in skin cells or by genetic testing of the gene for Canavan disease in blood.
Inheritance:Autosomal Recessive
Carrier testing:Available through genetic testing of the Canavan gene. Testing can identify about 97% of Ashkenazi Jewish carriers.
Prenatal diagnosis:Genetic testing of the Canavan disease gene. This testing is available to those with a previous affected child or to couples found to be at risk by carrier testing.

Technical Information on Canavan Disease

Additional Information:
The Canavan Foundation
600 West 111th Street
New York, NY 10025
(212) 316-6488
www.canavanfoundation.org

The Canavan Research Foundation
Fairwood Professional Building
New Fairwood, CT 06812
(203) 746-2463
fax: (203) 746-3205
www.canavan.org

Canavan Research Illinois
P.O. Box 8194
Rolling Meadows, IL 60067
(847) 222-0736
(800) 833-2194 (toll free)
email: canavan@canavanresearch.org
www.canavanresearch.org

United Leukodystrophy Foundation
Canavan Disease
2304 Highland Drive
Sycamore, IL 60178
(815) 895-3211
(800) 728-5483
fax: (815) 895-2432
email: ulf@tbc.net.com
http://www.ulf.org
Contact: Paula Brazeal