Clinical Information

Phosphofructokinase (PFK) is the third enzyme in glycolysis. It converts fructose 6-phosphate to fructose 1,6-diphosphate. PFK deficiency, also called glycogen storage disease, type VII or Tarui disease (OMIM 232800), is a rare hereditary autosomal recessive disorder that is typically noticed in childhood. Different clinical subtypes, classical, late-onset, infantile, and hemolytic, have been described. Manifestations can vary and include exercise intolerance, exertional myopathy, nausea, stiffness, and myoglobinuria. Although not classically described, a second-wind effect is noticed by some patients.(1) A subset of individuals has compensated (high normal hemoglobin values) or mild hemolytic anemia, episodic jaundice, hyperuricemia, or gout-like symptoms. No distinctive morphologic abnormalities are seen on the peripheral blood smear. Red blood cell PFK activity is typically partially decreased (30%-50% mean normal) and muscle biopsy PFK activity is markedly decreased.