" /> Pyruvate Kinase Deficiency - CISMeF





Preferred Label : Pyruvate Kinase Deficiency;

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.;

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31/07/2025


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