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Medical Term:

pyruvate kinase deficiency


Definition: 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.

© Copyright 2016 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.