Pyruvate kinase deficiency, also called erythrocyte pyruvate kinase deficiency, is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells and causes them to deform into echinocytes (`burr cells`) on peripheral blood smears. Both autosomal dominant and recessive inheritance have been observed w.....
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http://en.wikipedia.org/wiki/Pyruvate_kinase_deficiency
A disorder in which there is a deficiency of pyruvate kinase in red blood cells; characterised by haemolytic anaemia varying in degree from one patient to another; autosomal recessive inheritance. ... (05 Mar 2000) ...
Found on
http://www.encyclo.co.uk/local/20973
Type: Term Definitions: 1. a disorder in which there is a deficiency of pyruvate kinase in red blood cells; characterized by hemolytic anemia varying in degree from one patient to another; autosomal recessive inheritance, caused by mutation in the pyruvate kinase liver and red blood cell gene (PKLR) on chromosome 1 q. &nbs...
Found on
http://www.medilexicon.com/medicaldictionary.php?t=23221
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