Myoadenylate deaminase deficiency
Myoadenylate deaminase deficiency is an autosomal recessive disorder of skeletal muscle purine metabolism and is most commonly found in Caucasians. Although most individuals with an inherited myoadenylate deaminase deficiency are asymptomatic, physiological studies reveal measurable deficits in performance and cardiorespiratory response to exercise. Exertional myalgia is the most common clinical presentation in symptomatic myoadenylate deaminase deficiency, suggesting a contribution of other causative factors in this patient cohort.
Jul. 21, 2021