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.
|1 in 5,000 in the Jewish population
|1 in 38 in the Jewish population.
|Made by detecting lack of enzyme aspartoacylase in skin cells or by genetic testing of the gene for Canavan disease in blood.
|Available through genetic testing of the Canavan gene. Testing can identify about 97% of Ashkenazi Jewish carriers.
|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.
The Canavan Foundation
600 West 111th Street
New York, NY 10025
The Canavan Research Foundation
Fairwood Professional Building
New Fairwood, CT 06812
fax: (203) 746-3205