Catalog

Adenosine monophosphate deaminase deficiency

No MMS code

Link to WHO Definition

Adenosine monophosphate deaminase deficiency – http://id.who.int/icd/entity/550341491

Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described.: lack of activity of the erythrocyte isoform of AMP deaminase without obvious clinical relevance and myoadenylate deaminase deficiency, an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle characterised by exercise-induced muscle pain, cramps and/or early fatigue.