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.
On this page
In most cases, pyruvate kinase deficiency is caused by mutations in the PKLR gene. 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.
Last updated: 7/18/2011
- Haldeman-Englert C. Pyruvate kinase deficiency. MedlinePlus Encyclopedia. January 2010; http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm. Accessed 7/18/2011.
- Frye, Richard. Pyruvate Kinase Deficiency. eMedicine. December 18, 2008; http://emedicine.medscape.com/article/125096-overview. Accessed 7/18/2011.