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Adenosine monophosphate deaminase deficiency
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency is a common inherited muscle disorder that is often asymptomatic but can cause exercise‑induced fatigue, muscle pain, and cramps.

Overview

Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). In many affected individuals, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have fatigue, muscle pain (myalgia), or cramps after exercise or prolonged physical activity (exercise intolerance). Following strenuous activity, they often get tired more quickly and stay tired longer than would normally be expected. In rare cases, affected individuals have more severe symptoms including severe muscle weakness, low muscle tone (hypotonia), and muscle wasting (atrophy), but it is unclear whether these symptoms are due solely to AMP deaminase deficiency or additional health conditions. Exercise intolerance associated with AMP deaminase deficiency usually becomes apparent in childhood or early adulthood.

Frequency

AMP deaminase deficiency is one of the most common inherited muscle disorders in white populations, affecting 1 in 50 to 100 people. The prevalence is lower in African Americans, affecting an estimated 1 in 40,000 people, and the condition is even less common in the Japanese population.

Causes

AMP deaminase deficiency is caused by mutations in the AMPD1 gene, which provides instructions for producing an enzyme called AMP deaminase. This enzyme is found in skeletal muscles, where it plays a role in producing energy. Skeletal muscle cells need energy to function and move the body.

Mutations in the AMPD1 gene often result in an AMP deaminase enzyme that cannot function and, as a result, energy production in skeletal muscle cells is decreased. Skeletal muscles are particularly sensitive to decreases in energy during periods of exercise or increased activity when energy demands increase. The lack of AMP deaminase activity can result in fatigue, muscle weakness or pain, or other muscle problems in some people with AMP deaminase deficiency.

It is not known why some people with this condition do not experience symptoms. Researchers speculate that additional factors, both genetic and environmental, may determine whether a person develops the signs and symptoms of AMP deaminase deficiency.

Learn more about the gene associated with Adenosine monophosphate deaminase deficiency

  • AMPD1

Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Other Names for This Condition

  • AMP deaminase deficiency
  • Exercise-induced myopathy
  • MAD deficiency
  • MADA deficiency
  • Muscle AMP deaminase deficiency
  • Myoadenylate deaminase deficiency

Additional Information & Resources

Genetic Testing Information

  • Genetic Testing Registry: Muscle AMP deaminase deficiency

Genetic and Rare Diseases Information Center

  • Adenosine monophosphate deaminase deficiency

Patient Support and Advocacy Resources

  • National Organization for Rare Disorders (NORD)

Clinical Trials

  • ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

  • MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD

Scientific Articles on PubMed

  • PubMed

References

  • Fischer H, Esbjornsson M, Sabina RL, Stromberg A, Peyrard‑Janvid M, Norman B. AMP deaminase deficiency is associated with lower sprint cycling performance in healthy subjects. J Appl Physiol (1985). 2007 Jul;103(1):315‑22. doi:10.1152/japplphysiol.00185.2007. Epub 2007 Apr 26.
  • Gross M, Rotzer E, Kolle P, Mortier W, Reichmann H, Goebel HH, Lochmuller H, Pongratz D, Mahnke‑Zizelman DK, Sabina RL. A G468‑T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. Neuromuscul Disord. 2002 Aug;12(6):558‑65. doi:10.1016/s0960‑8966(02)00008‑1.
  • Hanisch F, Joshi P, Zierz S. AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance. J Neurol. 2008 Mar;255(3):318‑22. doi:10.1007/s00415-008-0530-6. Epub 2008 Mar 14.
  • Isackson PJ, Bujnicki H, Harding CO, Vladutiu GD. Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. Mol Genet Metab. 2005 Sep‑Oct;86(1‑2):250‑6. doi:10.1016/j.ymgme.2005.06.002. Epub 2005 Jul 22.
  • Rico‑Sanz J, Rankinen T, Joanisse DR, Leon AS, Skinner JS, Wilmore JH, Rao DC, Bouchard C; HERITAGE Family study. Associations between cardiorespiratory responses to exercise and the C34T AMPD1 gene polymorphism in the HERITAGE Family Study. Physiol Genomics. 2003 Jul 7;14(2):161‑6. doi:10.1152/physiolgenomics.00165.2002.
  • Teijeira S, San Millan B, Fernandez JM, Rivas E, Vieitez I, Miranda S, Gonzalez F, Navarro C. Myoadenylate deaminase deficiency: clinico‑pathological and molecular study of a series of 27 Spanish cases. Clin Neuropathol. 2009 Mar‑Apr;28(2):136‑42. doi:10.5414/npp28136.

Medical Encyclopedia

  • Genetics
  • Muscle aches
  • Weakness

Understanding Genetics

  • What is the prognosis of a genetic condition?
  • How can gene variants affect health and development?
  • What does it mean if a disorder seems to run in my family?
  • What are the different ways a genetic condition can be inherited?
  • How are genetic conditions treated or managed?

Frequently Asked Questions

high‑carbohydrate diet before exercise can provide readily available glycogen stores, reducing reliance on AMP deaminase. Adequate hydration is essential. Some patients find benefit from creatine monohydrate supplementation (5 g/day) to support energy production, though evidence is limited. L‑carnitine has been tried in small studies, but results are mixed. Always discuss supplements with your clinician before starting.
Look for a pattern of rapid onset fatigue and muscle cramps after only mild or moderate activity, with normal resting strength and normal creatine kinase levels. If the fatigue improves with rest and does not worsen with progressive training, and if you have a family history of similar symptoms, consider a metabolic myopathy such as AMP deaminase deficiency. A detailed exercise tolerance test and a review of your family history can help differentiate it from other causes like deconditioning or thyroid disease.
While most individuals remain asymptomatic, some may have overlapping metabolic myopathies such as glycogen storage disease or mitochondrial disorders. If you have unexplained muscle weakness, elevated lactate, or abnormal exercise testing, your clinician may recommend additional metabolic screening, including a lactate/pyruvate ratio, a mitochondrial DNA panel, or a broader neuromuscular genetic panel.
The gold standard is a muscle biopsy that measures AMP deaminase activity; a markedly reduced or absent activity confirms the diagnosis. Genetic testing for pathogenic variants in the AMPD1 gene is also widely used and can be done from a blood sample. Some laboratories offer a combined approach that includes a serum creatine kinase screen, a metabolic panel, and a targeted next‑generation sequencing panel for metabolic myopathies.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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