NCIt related terms : Hemolytic Anemia due to Pyruvate Kinase Deficiency;
NCIt definition : An inherited metabolic disorder characterized by the deficiency of the erythrocyte
enzyme pyruvate kinase. It results in the development of hemolytic anemia.;
Alternative definition : NICHD: An autosomal recessive disorder caused by mutations of the PKLR gene. It is
the most common inherited cause of non-spherocytic hemolytic anemia.;