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Enfermedad de Canavan - Información general

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, incidencia y factores de riesgo:

La enfermedad de Canavan se hereda como rasgo autosómico recesivo 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.

  • Fecha de revisión: 5/15/2008
  • Versión en inglés revisada por:Chad Haldeman- Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
  • Traducción y localización realizada por: DrTango, Inc

Referencias

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

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