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Deficiencia de piruvatocinasa - Overview

Definición:

Es una carencia hereditaria de la enzima piruvatocinasa, que es utilizada por los glóbulos rojos. Sin esta enzima, los glóbulos rojos se descomponen muy fácilmente, ocasionando reducción en sus niveles (anemia hemolítica).

Causas, incidencia y factores de riesgo:

La deficiencia de piruvatocinasa se transmite como un rasgo autosómico recesivo. Un niño tiene que recibir el gen defectuoso de ambos padres para presentar el trastorno.

Hay muchos tipos diferentes de defectos de los glóbulos rojos relacionados con las enzimas que pueden causar anemia hemolítica. La deficiencia de piruvatocinasa es la segunda causa más común de dicha anemia, después de la deficiencia de G-6-PD.

Aunque la deficiencia de piruvatocinasa se encuentra en personas de todos los antecedentes étnicos, ciertas poblaciones, como los Amish, son algo más propensos a presentar esta afección.

  • Reviewed last on: 1/21/2010
  • 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.

Referencias

Segel GB. Enzymatic defects. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 463.

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