Phosphoglycerate mutase deficiency is one of a group of muscle diseases that interferes with the processing of food (in this case, carbohydrates) for energy production.
This disease causes exercise intolerance, cramps, muscle pain and, sometimes, myoglobinuria (acute muscle breakdown leading to rust-colored urine). Permanent weakness is rare.
The condition is caused by a genetic defect in the phosphoglycerate mutase enzyme, which normally helps break down glucose (sugar) for energy production. For more, see Causes/Inheritance.
The disease has its onset anywhere from childhood to early adulthood and progresses slowly, if at all.
Researchers on metabolic diseases of muscle are making progress on a number of fronts, including: