A Member of the University of Maryland Medical System   |   In Partnership with the University of Maryland School of Medicine

Share

Email PageEmail Print PagePrint
Loading

Home > Medical Reference > Encyclopedia (English)

Toggle: English / Spanish

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.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com
Adam QualityA.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com
Connect with UMMC
Facebook Twitter YouTube Blog iPhone

Please rate the quality of this article.

Do you find this article to be helpful / informative?
              
Poor                                       Excellent

Do you have any brief comments on this page: (up to 255 characters)

© 2011 University of Maryland Medical Center (UMMC). All rights reserved.
UMMC is a member of the University of Maryland Medical System,
22 S. Greene Street, Baltimore, MD 21201. TDD: 1-800-735-2258 or 1.866.408.6885