Adenosine monophosphate deaminase deficiency

Keywords Disease name and synonyms AMP deaminase AMP deaminase deficiency Diagnosis criteria-definition Differential diagnosis Prevalence Clinical description Management Etiology Diagnostic methods Unresolved questions References Abstract There are two types of adenosine monophosphate deaminase deficiency. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with lack of AMP (adenosine monophosphate) deaminase activity in skeletal muscle. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance. Therefore, this chapter focusses only on myoadenylate deaminase deficiency. About 1% of the Caucasian population carries the genetic defect causing myoadenylate deaminase deficiency, but only a minority develops symptoms. The typical symptoms are exercised-induced muscle pain, cramps and/or early fatigue. The vast majority of patients with this disease is homozygous for the C34-T mutation in the AMPD1 gene. The symptoms can be ameliorated by intake of D-ribose. However, this sugar only works while it is taken, and has no beneficial effect on subsequent days.