Canavan disease is an inherited condition that affects the breakdown and use (metabolism) of aspartic acid.
Canavan disease is passed down (inherited) through families. It is more common among Ashkenazi Jews than in the general population.
The lack of the enzyme, aspartoacylase, leads to a buildup of material called N-acetylaspartic acid in the brain. This causes the white matter of the brain to break down (deteriorate).
Symptoms usually begin in the first year of life. Parents tend to notice when a child is not reaching certain developmental milestones, including head control.
Treatment aims to ease the symptoms of the disease. There is no specific treatment.
Additional information and resources are available from:
With Canavan disease, the central nervous system breaks down. Patients are likely to become disabled.
Death often occurs before 18 months of age. However, some patients live until they are teenagers or, rarely, young adults.
This is often a fatal disorder. It includes severe disabilities such as:
Call your health care provider if your child has any symptoms of Canavan disease.
Genetic counseling is recommended for people who want to have children and have a family history of Canavan disease. Counseling should be considered if both parents are of Ashkenazi Jewish descent. For this group, DNA testing can almost always tell whether one or both parents is a carrier.
A diagnosis may be made before the baby is born (prenatal diagnosis) by testing the amniotic fluid.
Spongy degeneration of the brain; Aspartoacylase deficiency