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Enfermedad de Canavan - Prevention

Nombres alternativos

Degeneración esponjosa del cerebro; Deficiencia de aspartoacilasa

Prevención:

La asesoría genética se recomienda para personas que deseen tener hijos y tengan antecedentes familiares de la enfermedad de Canavan. Se debe pensar en la asesoría si ambos padres tienen ascendencia judía asquenazí. Para este grupo, la prueba de ADN casi siempre puede establecer si uno o ambos padres son portadores.

Se puede hacer un diagnóstico antes de que el bebé nazca (diagnóstico prenatal) analizando el líquido amniótico.

  • 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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