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Síndrome de McArdle - Overview

Nombres alternativos

Enfermedad del almacenamiento de glucógeno tipo V (EAGV); Deficiencia de miofosforilasa; Deficiencia de glucógeno fosforilasa en los músculos; Deficiencia de PYGM

Definición:

Es la incapacidad para descomponer el glucógeno, una fuente importante de energía que se almacena en el tejido muscular.

Causas:

El síndrome de McArdle es causado por un defecto en un gen que produce una enzima llamada glucógeno fosforilasa. Como resultado, el cuerpo no puede descomponer el glucógeno en los músculos.

La enfermedad es un trastorno genético autosómico recesivo, lo cual significa que uno recibe una copia del gen defectuoso de ambos padres. Una persona que recibe un gen defectuoso de sólo uno de los padres generalmente no presenta este síndrome. Los antecedentes familiares del síndrome de McArdle incrementan el riesgo.

  • Reviewed last on: 3/29/2011
  • A.D.A.M. Editorial Team: David Zieve, MD, MHA, and David R. Eltz. Previously reviewed by Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network (1/21/2010).
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