Canavan Disease Info

Canavan disease is caused by a defective aspa gene.  This gene is located on the p arm of chromosome 17, and is responsible for the production of the enzyme aspartoacylase.  This deficiency leads to the buildup of N-acetylaspartic acid (NAA) in the brain.  The accumulated NAA causes a chemical imbalance resulting in myelin destruction.  Canavan disease is an autosomal recessive disorder.


  • Affects approximately 1in 6,400 people of Jewish ancestry
  • It is estimated that 1 in 40 Ashkenazi Jewish individuals are carriers


  • Mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (specifically floppiness or stiffness), poor head control, and megalocephaly
  • Paralysis, blindness, or seizures may occur
  • Symptoms appear in early infancy and progress rapidly
  • Children with Canavan disease cannot crawl, walk, sit or talk
  • Most children with Canavan disease will not live past the age of ten

Clinical Managements
There is currently no cure or effective treatment for Canavan disease