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Diseases

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
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Treatment


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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.[1][2] 

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. 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.
  2. Haldeman-Englert C. Pyruvate kinase deficiency. MedlinePlus Encyclopedia. January 2010; http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm. Accessed 7/18/2011.