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Enfermedad de Canavan - Overview

Nombres alternativos

Degeneración esponjosa del cerebro; Deficiencia de aspartoacilasa

Definición:

Es una enfermedad hereditaria que afecta la descomposición y uso (metabolismo) del ácido aspártico.

Causas:

La enfermedad de Canavan se transmite (hereda) de padres a hijos y es más común entre los judíos asquenacíes que en la población general.

La falta de la enzima aspartoacilasa lleva a una acumulación de material llamado ácido-N-acetilaspártico en el cerebro. Esto ocasiona la descomposición (deterioro) de la sustancia blanca del cerebro.

  • 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).

Referencias

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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