Answer and Discussion of Quiz Set: N-009

1.    It has been proved that Canavan's disease is more frequelty seen in which of the following racial ethnic group?

A.  Ashkenazi Jews

B.  Japanese, Koreans, and Chinese from the northeastern part of China

C.  African American

D.  American Indians

E.  Asians living in the Indian subcontinent

Answer and Discussion: The answer is (A). Canavan's disease, also known as Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive leukodystrophy that primarily affects children of eastern and central European Jewish (Ashkenazi) descent. It is caused by a defective ASPA gene on chromosome 17p13-ter which is responsible for the production of aspartoacylase which metabolizes N-acetyl aspartate to L-aspartic acid and acetate. N-acetylaspartic acid is found in high concentration and, after glutamic acid, the second most abundant free amino acid in the brain. Accumulation of N-acetyl aspartate will lead to toxicity.