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Genetic and Rare Diseases Information Center (GARD)

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Adenosine monophosphate deaminase 1 deficiency

Other Names for this Disease
  • AMP deaminase 1 deficiency
  • Myoadenylate deaminase deficiency
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Your Question

I was diagnosed with adenosine monophosphate deaminase deficiency 6 years ago. How might this condition be treated?

Our Answer

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How might adenosine monophosphate (AMP) deaminase deficiency be treated?

Treatment in the form of exercise modulation is recommended.[1] Unfortunately, there is no medical cure for this disorder. One possibility for management is the administration of D-ribose.[2][3][4] This pentose is easily absorbed in the gut and rapidly cleared by metabolic pathways. It presumably serves as an additional source of energy for muscle, and is only efficient as long as it is present in blood. Due to its short half-life, it has to be taken constantly to be beneficial. Dosing is also difficult as too little has no effect and too much causes diarrhea. These limitations are major limitations. In addition, ribose is not approved by an organization for the treatment of patients.[2] Xylitol, which can be metabolically converted to ribose, has also been reported to be beneficial.[3] Genetic approaches may be feasible in the future for inherited cases, whereas treatment of the underlying condition is essential in secondary cases.[3][4]
Last updated: 5/12/2009

What is adenosine monophosphate (AMP) 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. Mutations in the AMPD1 gene cause AMP deaminase deficiency. This condition is inherited in an autosomal recessive pattern. Researchers have proposed three types of AMP deaminase deficiency (inherited type, acquired type, and coincidental inherited type), which are distinguished by their symptoms and genetic cause.[5]
Last updated: 5/12/2009

What symptoms may be associated with adenosine monophosphate (AMP) deaminase deficiency?

In most people, AMP deaminase deficiency does not cause any symptoms. It is not known why most people with this condition do not experience symptoms. Researchers speculate that additional underlying causes may be involved. 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.[5]
Last updated: 5/12/2009

What causes adenosine monophosphate (AMP) 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.[5]

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.[5]


Last updated: 5/12/2009

How is adenosine monophosphate deaminase (AMP) deficiency inherited? 

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.[5]
Last updated: 5/12/2009