Pyruvate kinase deficiency

  • It leads to hemolytic anemia (RBC destruction).
  • The normal mature RBC has no mitochondria, thus it completely depends on glycolysis to produce ATP.
  • Patients RBCs typically have 5% to 25% of normal pyruvate kinase activity, and therefore the rate of glycolysis in these cells is decreased.
  • The anemia observed in PK-deficiency may be a consequence of the reduced rate of glycolysis.
  • The rate of ATP synthesis is thought to be inadequate to meet the energy needs of the cell and to maintain the structural integrity of the RBC.
  • The inability of RBC to maintain its membrane changes in the shape, phagocytosis by the cell takes place.
  • The premature death and lysis of RBC causes hemolytic anemia.