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Adenosine monophosphate deaminase 1 deficiency


Other Names for this Disease
  • Adenosine monophosphate deaminase deficiency
  • AMP deaminase 1 deficiency
  • AMP deaminase deficiency
  • AMPD1 deficiency
  • MMDD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

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

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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 deaminase 1 deficiency?

Adenosine monophosphate deaminase 1 (AMPD1) deficiency is an inherited condition that can affect the muscles used for movement (skeletal muscles). Many people with AMPD1 deficiency do not have symptoms. People who do have symptoms typically have muscle pain (myalgia), cramping, and weakness after exercise, and often get tired faster than others. Some affected people appear to have more severe symptoms. AMPD1 deficiency is caused by changes (mutations) in the AMPD1 gene and is inherited in an autosomal recessive manner. 

Other types of AMPD deficiency include the acquired type (due to a muscle or joint condition), and the coincidental inherited type (due to both mutations in the AMPD1 gene and a separate muscle or joint disorder).[5]
Last updated: 3/4/2015

What are the signs and symptoms of adenosine monophosphate deaminase 1 deficiency?

In many people, adenosine monophosphate deaminase 1 (AMPD1) deficiency does not cause any symptoms. The reasons for this are unclear. People who do have 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 others. Some people have more severe symptoms, but it is unclear whether these symptoms are due solely to AMPD1 deficiency, or additional factors.[5]
Last updated: 3/4/2015

What causes adenosine monophosphate deaminase 1 deficiency?

Adenosine monophosphate deaminase 1 (AMPD1) deficiency is caused by changes (mutations) in the AMPD1 gene. This gene gives the body instructions to make an enzyme called AMP deaminase, which plays a role in producing energy in skeletal muscle cells. Mutations in the AMPD1 gene disrupt the function of AMP deaminase, which impairs the ability of muscle cells to make energy. This lack of energy can lead to the muscle problems associated with AMPD1 deficiency.[5]

Other types of AMPD deficiency are known as the acquired type (due to a different muscle or joint condition), and the coincidental inherited type (due to both mutations in the AMPD1 gene and a separate muscle or joint disorder).[5]
Last updated: 3/4/2015

How is adenosine monophosphate deaminase 1 deficiency inherited? 

This condition is inherited in an autosomal recessive manner, which means that both copies of the responsible gene in each cell must have changes (mutations) for a person to be affected. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. Carriers are not affected and typically do not have signs and symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to be unaffected and not be a carrier.

There are many people who have mutations in both copies of the gene responsible for AMPD1 deficiency, but do not have any signs or symptoms (are unaffected).  The reasons for this are unclear.[5]
Last updated: 3/4/2015

References
Other Names for this Disease
  • Adenosine monophosphate deaminase deficiency
  • AMP deaminase 1 deficiency
  • AMP deaminase deficiency
  • AMPD1 deficiency
  • MMDD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.