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Canavan disease

Alternative names:

spongy degeneration of cerebral white matter

Definition:

An inherited disorder of aspartic acid metabolism that is characterized by degeneration of the white matter of the brain.

Causes, incidence, and risk factors:

Canavan disease is inherited as an autosomal recessive trait and has a higher incidence among Ashkenazi Jews than the general population. A deficient enzyme, aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain and subsequent degeneration of the white matter.


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