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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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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). Signs and symptoms include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia. 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. Pyruvate kinase deficiency is caused by a mutation in the PKLR gene and is inherited in an autosomal recessive fashion.
- Haldeman-Englert C. Pyruvate kinase deficiency. MedlinePlus Encyclopedia. http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm. Accessed July 18, 2011.
- 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.
- 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.
- Genetics Home Reference (GHR) contains information on Pyruvate kinase deficiency. Click on the link to go to GHR and review the information.
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- 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.
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- 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
- Durand PM, Coetzer TL. Pyruvate kinase deficiency protects against malaria in humans. Haematologica. 2008 Jun;93(6):939-40. Epub 2008 May 6.