Pyruvate kinase deficiency
Other Names for this Disease
- PK deficiency
- Pyruvate kinase deficiency of erythrocytes
- Pyruvate kinase deficiency of red cells
Your QuestionMy child, who is under 6 months old, has pyruvate kinase deficiency. What impact will this diagnosis have for her in the future?
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Questions on this page
Pyruvate kinase deficiency can produce mild or severe hemolysis (red cell breakdown) and anemia. Problems may first appear in the newborn as prolonged jaundice and anemia. Red blood cell transfusion may be necessary if the hemoglobin value falls signficantly. This tends to occur in early childhood or times of physiologic stress such as infections or pregnancy. Splenectomy may be needed in those who have more severe anemia. Older children may be pale (due to anemia), have intermittent episodes of jaundice and splenomegaly. Mild cases may escape detection until adulthood.
People who have mild to moderate forms of pyruvate kinase deficiency tend to do very well long term. People with more severe forms of the disease are mostly symptomatic during early childhood. Following early childhood, the condition is much better tolerated.
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.
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- Frye, Richard. Pyruvate Kinase Deficiency. eMedicine. December 18, 2008; http://emedicine.medscape.com/article/125096-overview. Accessed 7/18/2011.
- 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.
- 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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- Glader Bertil E. Chapter 76. Other Hereditary Red Blood Cell Disorders. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Emery and Rimoin's: Principles and Practices of Medical Genetics. Vol 2. 5th ed. Philadelphia, PA: Churchill Livingstone; 2007: 1675. .