Disease Information for Myoadenylate deaminase deficiency

Clinical Manifestations
Signs & Symptoms
Muscle Pain
Muscle pains/exercise induced
Muscle weakness
Asymptomatic patient
Decreased exercise tolerance/effort fatigue
Poor Stamina
Disease Progression
Diagnostic Test Results
Other Tests & Procedures
TEST/Exercise fails produce NH4/Inositol mono-PO4
Associated Diseases & Rule outs
Associated Disease & Complications
Metabolic Myopathy
Disease Mechanism & Classification
Pathophysiology/ATP cycle block in muscle
Pathophysiology/Metabolic myopathy (ex)
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Genetic expressivity variable (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
5' AMP Deaminase, Adenosine monophosphate deaminase, Adenylate Deaminase, Adenylate deaminase (substance), Adenylic acid deaminase, Aminase AMP, Aminohydrolase AMP, AMP aminase, AMP Aminohydrolase, AMP deaminase, AMP deaminase (substance), Deaminase 5' AMP, Deaminase Adenylate, Deaminase AMP, Deaminase Myoadenylate, Myoadenylate Deaminase, Synonym/MADD
Surgical Procedures or Treatments
TX/Restrict Activities

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

----------------------------[MAUS website 2007]------------------------

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;

------------------------------[Merk website]------------------------


External Links Related to Myoadenylate deaminase deficiency
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)