Phosphoglycerate kinase deficiency is one of a group of metabolic muscle diseases that interferes with the processing of food (in this case, carbohydrates) for energy production.
This disease may cause anemia, enlargement of the spleen, mental retardation and epilepsy. More rarely, it causes weakness, exercise intolerance, muscle cramps and episodes of myoglobinuria (acute muscle breakdown leading to rust-colored urine).
The condition is caused by a genetic defect in the phosphoglycerate kinase enzyme, which normally breaks down glucose (sugar) for energy production. For more, see Causes/Inheritance.
The disease has its onset from infancy to early adulthood, and its muscle symptoms are slowly progressive. As with other metabolic disorders, the earlier the onset, the more severe the symptoms.
Researchers on metabolic diseases of muscle are making progress on a number of fronts, including: