Pyruvate Kinase Deficiency

  • Erythrocytes depend on glycolysis
  • ATPs fuel erythrocyte activities and maintains RBC shape.
  • Mutant enzyme shows altered kinetics.
  • Inherited autosomal recessive disorder which affects the survival of red blood cells, causing them to break down easily.
  • Symptoms of PKD include long-term hemolytic anemia, variable degrees of jaundice, splenomegaly, increased incidence of gallstones, increased BPG with no Heinz bodies


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