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Brief Communications
Feberuary 1973

Muscle Phosphofructokinase Deficiency

Arch Neurol. 1973;28(2):128-130. doi:10.1001/archneur.1973.00490200076011

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.