Disease Information for Myoadenylate deaminase deficiency

Myoadenylate Deaminase Deficiency 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

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Disorders of Purine Catabolism: Myoadenylate deaminase deficiency (or muscle adenosine monophosphate deaminase deficiency): This enzyme converts AMP to inosine and ammonia; Deficiency may be asymptomatic or it may cause exercise-induced myalgias or cramping; expression seems to be variable because, despite the high frequency of the mutant allele (10 to 14%), the frequency of the muscle phenotype is quite low in patients homozygous for the mutant allele; When symptomatic patients exercise, they do not accumulate ammonia or inosine monophosphate as do normal people; this is how the disorder is diagnosed; Treatment is exercise modulation as appropriate;

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