Canavan disease is a rare inherited disorder that affects the brain’s white matter, which is responsible for transmitting signals between different parts of the brain. It is caused by mutations in the ASPA gene, which provides instructions for producing an enzyme called aspartoacylase.
Aspartoacylase breaks down a molecule called N-acetylaspartic acid (NAA), which is found in high levels in the brain. In people with Canavan disease, mutations in the ASPA gene prevent proper production of aspartoacylase, leading to a buildup of NAA and subsequent damage to white matter.
Symptoms typically appear within the first few months of life and include delayed development, weak muscle tone (hypotonia), difficulty feeding and swallowing, seizures, and an abnormally large head size (macrocephaly). Unfortunately, there is no cure for Canavan disease at this time.
Treatment options are limited to managing symptoms through physical therapy and medication. Genetic counseling can also be helpful for families affected by Canavan disease who may wish to undergo prenatal testing or consider adoption.
While rare, Canavan disease highlights the importance of genetic testing and counseling for families with a history of inherited disorders. Early diagnosis can lead to earlier intervention and better management of symptoms.