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Canavan disease - Overview

Alternative Names

Spongy degeneration of the brain; Aspartoacylase deficiency

Definition of Canavan disease:

Canavan disease is an inherited condition that affects the breakdown and use (metabolism) of aspartic acid.

Causes, incidence, and risk factors:

Canavan disease is passed down (inherited) through families. It is more common among Ashkenazi Jews than in the general population.

The lack of the enzyme, aspartoacylase, leads to a buildup of material called N-acetylaspartic acid in the brain. This causes the white matter of the brain to break down (deteriorate).

  • Reviewed last on: 10/14/2009
  • Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Rezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.

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