Canavan disease

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Spongy degeneration of the brain; Aspartoacylase deficiency

Genetic counseling is recommended for people who want to have children and have a family history of Canavan disease. Counseling should be considered if both parents are of Ashkenazi Jewish descent. For this group, DNA testing can almost always tell whether one or both parents is a carrier.

A diagnosis may be made before the baby is born (prenatal diagnosis) by testing the amniotic fluid.

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.

Review Date: 11/10/2010
Reviewed By: 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).

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org).

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