Phosphoglycerate mutase deficiency

Phosphoglycerate mutase deficiency is an autosomal recessive myopathy caused by a genetic defect of the muscle subunit of the enzyme PGM (type X, Fig. 42-1). 12 patients with this enzyme deficiency have been identified thus far. 

Phosphoglycerate mutase deficiency, the eighth enzyme step of glycolysis, is inherited autosomal recessive. Onset occurs in childhood to early adulthood. Symptoms include exercise intolerance, cramps, muscle pain and sometimes myoglobinuria. 

Phosphoglycerate mutase deficiency has been mapped on chromosome 7. The disorder is found predominantly in U.S. African American, Italian, and Japanese families. The cfinical features include exercise intolerance, muscle pain, and myoglobinuria following more intense exercise. 

T20. Toscano, A., Tsujino, S., Vita, G., Shanske, S., Messina, C., and DiMauro, S., Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred. Muscle Nerve 19, 1134-1137(1996). 

A different problem results from deficiency of enzymes of glycolysis such as phosphofructokinase (see Box 20-D), phosphoglycerate mutase, and pyruvate kinase. Lack of one isoenzyme of phosphoglycerate mutase in muscle leads to intolerance to strenuous exercise. A deficiency in pyruvate kinase is one of the most common defects of glycolysis in erythrocytes and leads to a shortened erythrocyte lifetime and hereditary hemolytic anemia. ... 

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