Myoadenylate Deaminase Deficiency
  • Clinical Trials
  • Definition - a muscle disease that interferes with the muscle cell's processing of ATP, the major energy molecule of the cell

    Cause - a genetic defect in the myoadenylate deaminase enzyme, which affects the cell's ability to recycle ATP

    Onset - adulthood

    Symptoms - exercise intolerance, cramps and muscle pain; often no symptoms appear

    Progression - not progressive

    Inheritance - autosomal recessive, or caused by the contribution of a defective gene from each parent

    Facts About Metabolic Diseases of Muscle