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Canavan disease

Definition:
Canavan disease is an inherited disorder of aspartic acid metabolism. It is characterized by degeneration of the white matter of the brain.

Alternative Names:
Spongy degeneration of the brain; Aspartoacylase deficiency

Causes, incidence, and risk factors:

Canavan disease is inherited as an autosomal recessive trait. It is more common among Ashkenazi Jews than in the general population.

A deficient enzyme, aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain. This causes a degeneration of the white matter.

Typically, symptoms begin in the first year of life with loss of developmental milestones and death before 18 months of age.



Review Date: 8/6/2003
Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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