Metabolic Myopathies

Myoadenylate deaminase deficiency

What is myoadenylate deaminase deficiency?

Myoadenylate deaminase deficiency is a metabolic muscle disease that interferes with the muscle cell's processing of adenosine triphosphate (ATP), the major energy molecule of the cell.

What are the symptoms of myoadenylate deaminase deficiency?

The disease may cause exercise intolerance, cramps and muscle pain; although, in many cases, people with deficiencies in this enzyme may experience no symptoms.

What causes myoadenylate deaminase deficiency?

Myoadenylate deaminase deficiency is caused by a genetic defect in the myoadenylate deaminase enzyme, which affects the cell's ability to process ATP. For more, see Causes/Inheritance.

What is the progression of myoadenylate deaminase deficiency?

The disease has its onset in adulthood and does not progress.

What is the status of research on myoadenylate deaminase deficiency?

Researchers on metabolic diseases of muscle are making progress on a number of fronts, including:

• better diagnosis to allow for earlier identification of at-risk individuals and earlier treatment;
• continued examination of the role of exercise and diet in metabolic diseases;
• development of animal models of metabolic diseases, both to improve understanding of the diseases and to test possible treatments;
• development of enzyme replacement therapies; and
• development of gene therapies.