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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 causes pyruvate kinase deficiency?

In most cases, pyruvate kinase deficiency is caused by mutations in the PKLR gene.[1] More than 100 different mutation in the PKLR gene have been detected. Medical conditions, such as acute leukemia, preleukemia, and refractory sideroblastic anemia, as well as complications from chemotherapy, can cause an acquired pyruvate kinase deficiency. This type is more common and milder than the hereditary type.[2]
Last updated: 7/18/2011

  1. Haldeman-Englert C. Pyruvate kinase deficiency. MedlinePlus Encyclopedia. January 2010; Accessed 7/18/2011.
  2. Frye, Richard. Pyruvate Kinase Deficiency. eMedicine. December 18, 2008; Accessed 7/18/2011.