Metabolic Myopathies

Phosphoglycerate mutase deficiency

What is phosphoglycerate mutase deficiency (glycogenosis type 10)?

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.

What are the symptoms of phosphoglycerate mutase deficiency?

This disease causes exercise intolerance, cramps, muscle pain and, sometimes, myoglobinuria (acute muscle breakdown leading to rust-colored urine). Permanent weakness is rare.

What causes phosphoglycerate mutase deficiency?

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.

What is the progression of phosphoglycerate mutase deficiency?

The disease has its onset anywhere from childhood to early adulthood and progresses slowly, if at all.

What is the status of research on phosphoglycerate mutase deficiency?

Researchers on metabolic diseases of muscle are making progress on a number of fronts, including:

• better diagnosis to allow for earlier identification of at-risk individuals and earlier treatment;
• continued examination of the role of exercise and diet in metabolic diseases;
• development of animal models of metabolic diseases, both to improve understanding of the diseases and to test possible treatments;
• development of enzyme replacement therapies; and
• development of gene therapies.