Phosphofructokinase Deficiency
17:02 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 phosphofructokinase enzyme, which affects the breakdown of glucose |
| Onset |
| teens to 30s |
| Symptoms |
| exercise intolerance, with pain and cramps, made worse by high-carbohydrate meal; myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) after vigorous exercise |
| Progression |
| not progressive, although weakness between episodes of exercise intolerance may occur late in disease |
| Inheritance |
| autosomal recessive, meaning caused by the contribution of a defective gene from each parent |
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