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Genetic and Rare Diseases Information Center (GARD)

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Pyruvate kinase deficiency

Other Names for this Disease
  • PK deficiency
  • Pyruvate kinase deficiency of erythrocytes
  • Pyruvate kinase deficiency of red cells
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What are the signs and symptoms of pyruvate kinase deficiency?

The signs and symptoms of pyruvate kinase deficiency include the breakdown of red blood cells resulting in hemolytic anemia, a yellowing of the whites of th eyes (icterus), fatigue, lethargy, recurrent gallstones, jaundice, and pale skin (pallor).[1] 
Last updated: 7/18/2011

  1. Haldeman-Englert C. Pyruvate kinase deficiency. MedlinePlus Encyclopedia. January 2010; Accessed 7/18/2011.