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Muscle phosphogylcerate mutase (PGAM) deficiency

A second case

H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons (Drs. Bresolin, Miranda, and DiMauro), New York, NY, and the Departments of Neurology and Pathology, Mount Sinai Hospital Medical Center of Chicago (Drs. Ro and Reyes), Chicago, IL.

Muscle phosphoglycerate mutase (PGAM) activity was markedly decreased (6% of the normal mean) in a 17-year-old girl with recurrent myoglobinuria after intense exercise. Muscle biopsy showed increased PAS stain; glycogen concentration was twice normal. Studies of anaerobic glycolysis in vitro showed decreased lactate production with glycogen, and with all hexose phosphate glycolytic intermediates, which was corrected by addition of purified PGAM to the reaction mixtures. A defect of the M subunit of PGAM was documented by electrophoretic, heat lability, and mercury inhibition studies. Intermediate PGAM activities (39 and 50% of normal) were found in muscle biopsies from the patient's asymptomatic parents. These data confirm the clinical, morphologic, and biochemical features described in the first patient with PGAM deficiency and suggest autosomal-recessive transmission of the trait.

Address correspondence and reprint requests to Dr. S. DiMauro, 4–420 College of Physicians and Surgeons, 630 West 168 Street, New York, NY 10032.

Supported by Center Grant No. NS-11766 from the National Institute of Neurological and Communicative Disorders and Stroke, and from the Muscular Dystrophy Association and by Grant No. AM-25500 from the National Institute of Arthritis, Metabolism, and Digestive Diseases. Dr. Bresolin is the recipient of a postdoctoral research fellowship from the Muscular Dystrophy Association.

Accepted for publication December 17, 1982.