What causes Canavan syndrome?

What causes Canavan syndrome?

Canavan disease is inherited, which means it’s passed down from parents to children.

A mutation in a gene that makes an enzyme called aspartoacylase (ASPA) causes the disease. ASPA’s job is to break down a brain chemical called N-acetyl-aspartate (NAA).

People with Canavan disease don’t have enough ASPA, so NAA builds up in brain tissue. This damages their myelin (white matter), a fatty substance that protects and nourishes nerves in their brain and spine. Over time, this causes their brain to deteriorate into spongy tissue with lots of tiny fluid-filled spaces. It also prevents their brain from sending and receiving nerve signals properly.