Muscle Phosphofructokinase Deficiency
1973; American Medical Association; Volume: 28; Issue: 2 Linguagem: Inglês
10.1001/archneur.1973.00490200076011
ISSN1538-3687
AutoresWayne E. Tobin, F. Huijing, Robert S. Porro, Robert T. Salzman,
Tópico(s)Cancer, Hypoxia, and Metabolism
ResumoThe 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.
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