Phosphoglycerate Mutase Deficiency
17:00 Posted by Ahmed Khalil
| Definition |
| one of a group of muscle diseases that interfere with the processing of carbohydrates for energy production |
| Cause |
| a genetic defect in the phosphoglycerate mutase enzyme, which normally helps break down glucose (sugar) for energy production |
| Onset |
| childhood to early adulthood |
| Symptoms |
| exercise intolerance, cramps, muscle pain and, sometimes, myoglobinuria (rust-colored urine indicating breakdown of muscle tissue); permanent weakness is rare |
| Progression |
| slowly progressive or not progressive |
| Inheritance |
| autosomal recessive, meaning caused by the contribution of a defective gene from each parent |
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