- Last Updated: Monday, 19 May 2014 19:56
Canavan is a progressive neurological genetic disorder caused by the absence of a vital enzyme known as aspartoacylase (ASPA). ASPA breaks N-acetylaspartate acid (NAA) into building blocks essential for building myelin. Myelin is a fatty membrane (also known as white matter) that forms a proactive coating around each nerve ensuring the nerve functions properly. It is one of over 50 genetically inherited disorders known as Leukodystrophies. A cure for Canavan does not yet exist but there are many strategies for managing life with Canavan disease.
Who is at risk?
Anyone can be a carrier or Canavan. When both parents are carriers each child has a 25% of having the disease. The carrier rate for the general population is 1/300. Ashkenazi Jews are at high risk with a carrier rate of 1/40.
Talk to your doctor about Genetic Counseling to discuss your options before starting your family.
Causes - The absence of an enzyme vital to building myelin
History of Canavan - First described in 1931.