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.
Tobin WE, Huijing F, Porro RS, Salzman RT. Muscle Phosphofructokinase Deficiency. Arch Neurol. 1973;28(2):128–130. doi:10.1001/archneur.1973.00490200076011
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