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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pyruvate kinase deficiency


Other Names for this Disease
  • Pyruvate kinase deficiency of red cells
  • Pyruvate kinase deficiency of erythrocytes
  • PK deficiency
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Cause

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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

References
  1. Haldeman-Englert C. Pyruvate kinase deficiency. MedlinePlus Encyclopedia. 2/3/2014; http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm.
  2. Hassan M Yaish, MD. Pyruvate Kinase Deficiency. Medscape. April 28, 2014; http://emedicine.medscape.com/article/2196589-overview.


Other Names for this Disease
  • Pyruvate kinase deficiency of red cells
  • Pyruvate kinase deficiency of erythrocytes
  • PK deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.