Adenosine Monophosphate Deaminase 1 Deficiency

Common Name(s)

Adenosine Monophosphate Deaminase 1 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.
 

Advocacy and Support Organizations

 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adenosine Monophosphate Deaminase 1 Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Adenosine Monophosphate Deaminase 1 Deficiency" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.