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Pathway Description
Pyruvate Kinase Deficiency
Homo sapiens
Disease Pathway
Pyruvate kinase deficiency is a genetic disorder. It affects red blood cells in the body. Patients are affected by a condition called chronic hemolytic anemia, which is where red blood cells undergo hemolysis before they are meant to which causes anemia in the patient. Symptoms of this condition can include jaundice, fatigue, dyspnea and splenomegaly. Gallstones are also common to patients with this disorder. This disorder is diagnosed through genetic testing. In mild cases, no treatment is required. Patients with more severe cases may require blood transfusions, and occasionally the spleen is removed to aid with the reduction of red blood cell destruction.
References
Pyruvate Kinase Deficiency References
[Metagen: PYRUVATE KINASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=138)
[OMIM: 266200](http://omim.org/entry/266200})
[NIH](http://ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency)
Tanaka KR, Paglia DE: Pyruvate kinase deficiency. Semin Hematol. 1971 Oct;8(4):367-96.
Pubmed: 4942588
Pyruvate Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Gray LR, Tompkins SC, Taylor EB: Regulation of pyruvate metabolism and human disease. Cell Mol Life Sci. 2014 Jul;71(14):2577-604. doi: 10.1007/s00018-013-1539-2. Epub 2013 Dec 21.
Pubmed: 24363178
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