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Genetics Home Reference: your guide to understanding genetic conditions
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Adenosine monophosphate deaminase deficiency

Reviewed July 2008

What is adenosine monophosphate deaminase deficiency?

Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). People with this condition do not make enough of an enzyme called AMP deaminase. In most people, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have muscle pain (myalgia) or weakness after exercise or prolonged physical activity. They often get tired more quickly and stay tired longer than would normally be expected. Some affected individuals have more severe symptoms, but it is unclear whether these symptoms are due solely to a lack of AMP deaminase or additional factors. Muscle weakness is typically apparent beginning in childhood or early adulthood.

Researchers have proposed three types of AMP deaminase deficiency, which are distinguished by their symptoms and genetic cause.

How common is adenosine monophosphate deaminase deficiency?

AMP deaminase deficiency is one of the most common inherited muscle disorders in Caucasians, 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.

What genes are related to adenosine monophosphate deaminase deficiency?

Mutations in the AMPD1 gene cause AMP deaminase deficiency. The AMPD1 gene provides instructions for producing an enzyme called AMP deaminase. This enzyme is found in skeletal muscle, where it plays a role in producing energy within muscle cells. Mutations in the AMPD1 gene disrupt the function of AMP deaminase and impair the muscle cells' ability to produce energy. This lack of energy can lead to myalgia or other muscle problems associated with AMP deaminase deficiency.

The three types of AMP deaminase deficiency are known as the inherited type, acquired type, and coincidental inherited type.

Individuals with the inherited type have a mutation in both copies of the AMPD1 gene in each cell. Most people are asymptomatic, meaning they have no symptoms. Some people with AMP deaminase deficiency experience muscle weakness or pain following exercise.

The acquired type occurs in people who have decreased levels of AMP deaminase due to the presence of a muscle or joint condition.

People with the coincidental inherited type have a mutation in both copies of the AMPD1 gene. Additionally, they have a separate joint or muscle disorder. Some individuals experience more severe joint or muscle symptoms related to their disorder if they have AMP deaminase deficiency than do people without this enzyme deficiency. Most, however, do not have any symptoms associated with AMP deaminase deficiency.

It is not known why most people with this condition do not experience symptoms. Researchers speculate that additional mutations in other genes may be involved.

Related Gene(s)

Changes in this gene are associated with adenosine monophosphate deaminase deficiency.

  • AMPD1

How do people inherit adenosine monophosphate deaminase deficiency?

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.

Where can I find information about diagnosis or management of adenosine monophosphate deaminase deficiency?

These resources address the diagnosis or management of adenosine monophosphate deaminase deficiency and may include treatment providers.

  • MedlinePlus Encyclopedia: Muscle aches (http://www.nlm.nih.gov/medlineplus/ency/article/003178.htm)
  • MedlinePlus Encyclopedia: Weakness (http://www.nlm.nih.gov/medlineplus/ency/article/003174.htm)

You might also find information on the diagnosis or management of adenosine monophosphate deaminase deficiency in Educational resources (http://www.ghr.nlm.nih.gov/condition/adenosine-monophosphate-deaminase-deficiency/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/adenosine-monophosphate-deaminase-deficiency/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook.

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about adenosine monophosphate deaminase deficiency?

You may find the following resources about adenosine monophosphate deaminase deficiency helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for adenosine monophosphate deaminase deficiency?

  • AMP deaminase deficiency
  • exercise-induced myopathy
  • MADA deficiency
  • MAD deficiency
  • muscle AMP deaminase deficiency
  • myoadenylate deaminase deficiency

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about adenosine monophosphate deaminase deficiency?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding adenosine monophosphate deaminase deficiency?

asymptomatic ; autosomal ; autosomal recessive ; cell ; deficiency ; enzyme ; gene ; inherited ; joint ; muscle cells ; mutation ; myalgia ; nucleotide ; population ; prevalence ; recessive ; skeletal muscle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Fischer H, Esbjörnsson M, Sabina RL, Strömberg 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. Epub 2007 Apr 26. (http://www.ncbi.nlm.nih.gov/pubmed/17463303?dopt=Abstract)
  • Gross M, Rötzer E, Kölle P, Mortier W, Reichmann H, Goebel HH, Lochmüller 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. (http://www.ncbi.nlm.nih.gov/pubmed/12117480?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/18338202?dopt=Abstract)
  • 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. Epub 2005 Jul 22. (http://www.ncbi.nlm.nih.gov/pubmed/16040263?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/12783984?dopt=Abstract)
  • Sabina RL. Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation. Neurol Clin. 2000 Feb;18(1):185-94. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10658174?dopt=Abstract)
  • Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab. 2000 Sep-Oct;71(1-2):10-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11001791?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2008
Published: October 20, 2014