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Wayne E. Tobin, MD; Frans Huijing, PhD; Robert S. Porro, MD; Robert T. Salzman, MD

Arch Neurol. 1973;28(2):128-130.

Abstract
The sixth case, to our knowledge, of phosphofructokinase deficiency is reported in a 20-year-old, otherwise healthy, man. The clinical presentation consisted of exercise intolerance, muscle pain, and elevated blood levels of muscle enzymes. The abnormality in the muscle was confirmed with electromyography, ischemic exercise testing, light microscopy with histochemistry, and electron microscopy. Biochemical determinations diagnosed the defect in phosphofructokinase activity.

Author Affiliations
Miami; New York; Miami, Fla

From the departments of neurology and biochemistry, University of Miami School of Medicine, and the Baptist Hospital, Miami, Fla.

Footnotes
Accepted for publication Sept 15, 1972.

Dr. Porro is now at the Cornell Medical Center, New York; Dr. Huijing is a Research Career Development Awardee of the National Institute of Arthritis and Metabolic Diseases.

Reprint requests to Dadeland Medical Building, 7400 N Kendall Dr, Miami, Fla 33156 (Dr. Tobin).

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ABSTRACT