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The Cause of Canavan Disease

Canavan disease is classified as a leukodystrophy—a group of inherited neurological disorders that affect the growth of the myelin sheath.

A mutation in the gene which directs the production of the enzyme aspartoacylase (ASPA) allows the buildup of N-acetylaspartic acid (NAA) in the brain. The buildup of NAA causes damage to myelin, a type of fat that surrounds nerve fibers (or axons) in the brain and spinal cord, forming a protective coating that ensures that nerve impulses are properly transmitted from one part of the body to another.

The NIH Genetics Home Reference site has further scientific information on Canavan disease with extensive links to other scientific and medical sites.