Canavan disease is a severe degenerative disease of the central nervous system. Most children with Canavan disease appear normal at birth. It is not until three to five months of age that their parents might notice subtle differences in the child. For instance, the child may be unable to perform motor tasks, such as rolling over. Grasping and visual inattentiveness or tremors are frequently noted. These children eventually become blind and have problems with swallowing. They frequently die in childhood but may live into adolescence or even early adulthood.

Canavan disease is caused by the lack of a substance called aspartoacylase (ASPA). ASPA is an enzyme that breaks down another substance called N-acetylaspartic acid (NAA). The missing ASPA causes the NAA to build up, leading to brain damage, mental retardation, and the other problems seen in this disease.

Currently, there is no cure for Canavan disease. There are some treatments available for managing and relieving the complications associated with Canavan disease. These include physical and occupational therapy, a feeding tube when eating becomes difficult for the child, and certain medications for seizures and relief of pain. Research is presently being conducted to determine the safety and efficacy of gene therapy for this disorder. One in 40 Ashkenazi Jews is a carrier for this disease gene, located on chromosome 17.