Genetic Predictors of Adenosine Monophosphate Deaminase Deficiency
- *Corresponding Author:
- Julien S Baker
Professor, Institute of Clinical Exercise and Health Science
University of the West of Scotland
Tel: 01698 283100
Fax: 01698 894404
E-mail: [email protected]
Received Date: August 16, 2013; Accepted Date: August 24, 2013; Published Date: August 31, 2013
Citation: Hayes LD, Houston FE , Baker JS (2013) Genetic Predictors of Adenosine Monophosphate Deaminase Deficiency. J Sports Med Doping Stud 3:124. doi:10.4172/2161-0673.1000124
Copyright: © 2013 Hayes LD, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
In the majority of the population, during high intensity exercise, Adenosine Monohosphate Deaminase (AMPD) Converts Adenosine Monophosphate (AMP) to Inosine Monophosphate (IMP), with the liberation of ammonia in the process. The AMPD reaction displaces the adenylate kinase equilibrium in the direction of ATP formation during exercise, providing additional energy and preventing a large increase in ADP. AMPD deficiency has been proposed to result in faster fatigue development and earlier inhibition of muscle contractions. This review considers a number of genetic mutations that lead to skeletal muscle AMPD deficiency, their pathology and likely symptoms of the disorder.