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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Pyruvate kinase deficiency is a genetic 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] The signs and symptoms of the disease may vary greatly from person to person. However, they usually include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia.[2] In some cases, the problems may first appear while in utero, causing a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus (hydrops fetalis). Newborns may present with 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] Although the anemia tends to stabilize in adulthood, episodes of anemia may occur with acute infections, stress, and pregnancy.[3] Pyruvate kinase deficiency is caused by a mutation in the PKLR gene and is inherited in an autosomal recessive fashion.[1][4] Treatment remains supportive rather than curative.[3]



 
Last updated: 1/13/2016

References

  1. Haldeman-Englert C. Pyruvate kinase deficiency. MedlinePlus Encyclopedia. 2/3/2014; http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm.
  2. Pyruvate Kinase Deficiency. National Organization for Rare Disorders (NORD). 2005; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/465/viewAbstract. Accessed 7/18/2011.
  3. Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol. 2015 Sep; 90(9):825-30.
  4. 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 7/18/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Pyruvate kinase deficiency. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • 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.

Selected Full-Text Journal Articles

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.