Canavan disease is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of the enzyme aspartoacylase, which is necessary for the breakdown of a compound called N-acetylaspartic acid (NAA) in the brain.
Without aspartoacylase, NAA accumulates in the brain, causing damage to the myelin sheath that surrounds and protects nerve cells. This damage leads to progressive degeneration of the white matter in the brain, which in turn causes a range of neurological symptoms.
The symptoms of Canavan disease typically appear within the first few months of life, and may include delayed development of motor skills such as crawling and walking, weak muscle tone (hypotonia), an abnormally large head size (macrocephaly), seizures, and vision and hearing problems. The disease is progressive and often leads to severe disability, with many children with Canavan disease not surviving past their teenage years.
Canavan disease is an autosomal recessive disorder, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) in order to develop the disease. The disease is more common in certain populations, particularly those of Ashkenazi Jewish descent.
Currently, there is no cure for Canavan disease, and treatment is primarily supportive, aimed at managing symptoms and improving quality of life. This may include physical therapy to improve muscle strength and coordination, medication to manage seizures, and other forms of supportive care as needed.
Research is ongoing into potential treatments for Canavan disease, including gene therapy and stem cell therapy, but there is currently no established cure or definitive treatment option for this rare and devastating disorder.