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 13,000 in the Ashkenazi Jewish population
Carrier frequency:
1 in 57 in the Ashkenazi Jewish population. Frequency in non-Jews is unknown.
Diagnosis:
Made by detecting lack of enzyme aspartoacylase in skin cells, elevated levels of N-acetylaspartic acid (NAA) in urine, 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.
