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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
More Names
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Overview


Pyruvate kinase deficiency is a hereditary blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia).[1] Signs and symptoms include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia.[2] Problems may first appear in the newborn as prolonged jaundice and anemia. Older children may be pale (due to anemia) and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood.[1] Pyruvate kinase deficiency is caused by a mutation in the PKLR gene and is inherited in an autosomal recessive fashion.[1][3] 


References

  1. Haldeman-Englert C. Pyruvate kinase deficiency. MedlinePlus Encyclopedia. http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm. Accessed July 18, 2011.
  2. Pyruvate Kinase Deficiency. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/465/viewAbstract. Accessed July 18, 2011.
  3. Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G. Pyruvate kinase deficiency: the genotype-phenotype association.. Blood Rev. 2007. http://www.ncbi.nlm.nih.gov/pubmed/17360088. Accessed July 18, 2011.
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General Information

  • Genetics Home Reference (GHR) contains information on Pyruvate kinase deficiency. Click on the link to go to GHR and review the information.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pyruvate kinase deficiency. Click on the link to view a sample search on this topic.
  • eMedicine has two articles on this topic from the perspective of adults and children. You may need to register to view the information online, but registration is free. Click on the links above to view the articles from this medical reference Web site.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pyruvate kinase deficiency. Click on the link to go to OMIM and review these resources.

Selected Full-Text Journal Articles