adenosine monophosphate deaminase deficiency

Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (). 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.