Genetic predictors of adenosine monophosphate deaminase deficiency

Lawrence D. Hayes, Fraser E. Houston, Julien Baker

Research output: Contribution to journalArticle

Abstract

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.
Original languageEnglish
Number of pages4
JournalJournal of Sports Medicine & Doping Studies
Volume3
Issue number2
DOIs
Publication statusPublished - 31 Aug 2013

Fingerprint

Adenosine Deaminase
Adenylate Kinase
Inosine Monophosphate
Adenosine Monophosphate
Muscle Contraction
Ammonia
Adenosine Diphosphate
Fatigue
Skeletal Muscle
Adenosine Triphosphate
Pathology
Mutation
Population
Severe combined immunodeficiency due to adenosine deaminase deficiency
Adenosine monophosphate deaminase deficiency
Direction compound

Keywords

  • Exercise intolernace
  • ADP
  • AMP
  • AMPD
  • ATP

Cite this

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Genetic predictors of adenosine monophosphate deaminase deficiency. / Hayes, Lawrence D.; Houston, Fraser E.; Baker, Julien.

In: Journal of Sports Medicine & Doping Studies, Vol. 3, No. 2, 31.08.2013.

Research output: Contribution to journalArticle

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