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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