Phosphorylase Deficiency (MPD or PYGM)
17:03 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 phosphorylase (also known as myophosphorylase) enzyme, which affects the breakdown of glycogen, the stored form of glucose (sugar) |
| Onset |
| usually before age 15 |
| Symptoms |
| exercise intolerance; cramps, muscle pain and weakness shortly after beginning exercise; "second wind" after resting |
| Progression |
| generally not progressive, although weakness between episodes of exercise sometimes develops |
| Inheritance |
| autosomal recessive, meaning caused by the contribution of a defective gene from each parent |
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