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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
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

What is pyruvate kinase deficiency?

What are the signs and symptoms of pyruvate kinase deficiency?

What causes pyruvate kinase deficiency?

Is genetic testing available for pyruvate kinase deficiency?

How might pyruvate kinase deficiency be treated?

What is pyruvate kinase deficiency?

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] 
Last updated: 7/18/2011

What are the signs and symptoms of pyruvate kinase deficiency?

The signs and symptoms of pyruvate kinase deficiency include the breakdown of red blood cells resulting in hemolytic anemia, a yellowing of the whites of th eyes (icterus), fatigue, lethargy, recurrent gallstones, jaundice, and pale skin (pallor).[1] 
Last updated: 7/18/2011

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.[4]
Last updated: 7/18/2011

Is genetic testing available for pyruvate kinase deficiency?

Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose an affected person or other family members and to aid in decisions regarding medical care or reproductive issues. We recommend that you talk to your health care provider or a genetic professional to learn more about your testing options.
Last updated: 7/18/2011

How might pyruvate kinase deficiency be treated?

Mild cases require no treatment. People with severe anemia may need blood transfusions.  In newborns with dangerous levels of jaundice, a health care provider may recommend an exchange transfusion. Surgical removal of the spleen (splenectomy) may also be necessary to help reduce the destruction of red blood cells. However, this does not help in all cases. With small children, this is delayed as long as possible to allow the immune system to mature. Other treatment is symptomatic and supportive. Someone who had a splenectomy should receive the pneumococcal vaccine at recommended intervals. They also should receive preventive antibiotics until age 5.[2][1] 

An article from eMedicine Journal provides additional information on treatment for pyruvate kinase deficiency at the following link. You may need to register to view the article, but registration is free.
http://emedicine.medscape.com/article/125096-treatment#showall
Last updated: 7/18/2011

References
  1. Haldeman-Englert C. Pyruvate kinase deficiency. MedlinePlus Encyclopedia. January 2010; http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm. Accessed 7/18/2011.
  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. 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.
  4. Frye, Richard. Pyruvate Kinase Deficiency. eMedicine. December 18, 2008; http://emedicine.medscape.com/article/125096-overview. Accessed 7/18/2011.


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