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Late-onset muscle phosphofructokinase deficiency

From the Departments of Neurology and Pathology (Dr. Danon), University of Illinois College of Medicine, Chicago, IL; the Department of Neurology (Drs. Servidei and DiMauro), College of Physicians and Surgeons, Columbia University, New York, NY; and the Department of Basic and Clinical Research (Dr. Vora), Scripps Clinic and Research Foundation, La Jolla, CA.

A 75-year-old man had a 10-year history of slowly progressive limb weakness without cramps or myoglobinuria. Clinical, morphologic, and biochemical studies showed muscle phosphofructokinase (PFK) deficiency. Erythrocyte PFK activity in his asymptomatic daughter was 63% of normal, compatible with a carrier state. The chronic myopathic variant of muscle PFK deficiency appears to be transmitted as an autosomal recessive trait and may be due to a distinct genetic defect.

Address correspondence and reprint requests to Dr. Danon, Department of Neurology, University of Illinois College of Medicine, 912 South Wood Street, Chicago, IL 60612.

^*We wish to dedicate this paper to a brilliant physician and scientist, Dr. Shobhana Vora, who recently passed away in a tragic car accident.

Presented in part at the thirty-seventh annual meeting of the American Academy of Neurology, Dallas, TX, May 1985.

Received July 7, 1987. Accepted for publication in final form October 15, 1987.

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