Canavan disease is diagnosed through a combination of biochemical and DNA tests. Increased amounts of N-acetylaspartic acid (NAA) is found in the urine. Profound deficiency of aspartoacylase is found in cultured skin fibroblasts. Known disease-causing mutations are frequently found through DNA testing. Occasionally, known mutations are not found suggesting novel (or unknown) mutations.
Often an MRI or CT showing signs of decreased myelination leads to the Canavan diagnosis.
Anyone can be a carrier of Canavan. When both parents are carriers each child has a 25% of having the disease. The carrier rate for the general population is 1/300. Ashkenazi Jews are at high risk with a carrier rate of 1/40.
Talk to your doctor about
genetic counseling to discuss your options before starting your family.
