Pyruvate Kinase Deficiency
Pyruvate Kinase Deficiency is an autosomal recessive disorder primarily affecting red blood cells (RBCs).
A deficiency of pyruvate kinase impairs the final step of glycolysis (from PEP to pyruvate), leading to ATP depletion.
ATP depletion in RBCs leads to rigidity and extravascular hemolysis in the spleen. The resulting anemia is compensated for by increased 2,3-BPG, which increases oxygen unloading to tissues.
Chronic hemolysis can lead to jaundice, pigmented gallstones, and increased bilirubin levels. Echinocytes ("burr cells") can be seen on peripheral blood smear. The treatment includes transfusions for anemia and splenectomy in severe cases.
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