A deficient enzyme , aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain and subsequent degeneration of the white matter. Genetic counseling is recommended for prospective parents with a family history of Canavan disease. The carrier state for Canavan disease can be diagnosed by enzyme analysis of skin fibroblasts.
Prenatal diagnosis is possible.
Treatment aims to ease the symptoms of the disease. With Canavan disease, the central nervous system degenerates and progressive disability is likely . Death usually occurs in the first 1 to 2 decades of life. This is often a fatal disorder. Call your health care provider if your child has any symptoms of Canavan disease.