Canavan disease is a degenerative neurologic condition characterized by aspartoacylase deficiency, resulting in a spongy deterioration of the brain. It is due to mutations in the ASPA gene encoding the aspartoacylase enzyme that catalyzes the conversion of acetylaspartic acid (NAA) to aspartate and acetate. Diagnosis of Canavan disease can be achieved by examining urine NAA.
May. 25, 2019