Canavan disease - Overview
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: 11/10/2010
- A.D.A.M. Editorial: David Zieve, MD, MHA, and David R. Eltz. Previously reviewed by Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network (10/14/2009).
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.
The information provided herein should not be used during any medical emergency or for the
diagnosis or treatment of any medical condition. A licensed medical professional should be
consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all
medical emergencies. Links to other sites are provided for information only -- they do not
constitute endorsements of those other sites. © 1997-
A.D.A.M., Inc. Any duplication or distribution of the information contained herein is
© 2011 University of Maryland Medical Center (UMMC). All rights reserved.
UMMC is a member of the University of Maryland Medical System,
22 S. Greene Street, Baltimore, MD 21201. TDD: 1-800-735-2258 or 1.866.408.6885