Pyruvate kinase deficiency
- Pyruvate kinase deficiency of red cells
- Pyruvate kinase deficiency of erythrocytes
- PK deficiency
Your QuestionMy child, who is under 6 months old, has pyruvate kinase deficiency. What impact will this diagnosis have for her in the future?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
Individuals with mild to moderate forms of pyruvate kinase deficiency tend to do very well long term. Individuals 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.
- Haldeman-Englert C. Pyruvate kinase deficiency. MedlinePlus Encyclopedia. 2/3/2014; http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm.
- Hassan M Yaish, MD. Pyruvate Kinase Deficiency. Medscape. April 28, 2014; http://emedicine.medscape.com/article/2196589-overview.
- 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.