Myoadenylate Deaminase Deficiency
16:58 Posted by Ahmed Khalil
| 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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