Adenosine monophosphate deaminase deficiency

Adenosine monophosphate deaminase deficiency is a metabolic disease of the muscles.

Two forms of AMPD deficiency can be distiguished. First, there is the deficiency of the erythrocyte form of AMPD. It has no clinical symptoms and occurs at low plasma levels in uric acid.

The second form is the lack of myoadenylate deaminase. This is a hereditary disease that leads to stress-induced muscle weakness, muscle pain and cramps due to the lack of AMPD activity in skeletal muscle.

The disease is caused by a gene mutation, and the inheritance is autosomal recessive. 

The age of onset is variable, ranging from early childhood to adulthood. The course of the disease is characterized by an increase in symptoms after the first manifestation, after a few years the condition of those affected stabilizes. 

From time to time, patients with the corresponding mutation are observed, however showing no symptoms. The exact cause of adenosine monophosphate deaminase deficiency with clinical symptoms is therefore not fully understood.