Adenosine monophosphate deaminase 1 deficiency

Disease Overview

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.[1186]

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).[1186]

Synonyms

• Adenosine monophosphate deaminase deficiency
• AMP deaminase deficiency
• MMDD
• AMPD1 deficiency
• Myopathy due to myoadenylate deaminase deficiency
• AMP deaminase 1 deficiency
• Myoadenylate deaminase deficiency