Editing Pyruvate kinase (section)

==== PK-LR gene mutation ====
Pyruvate kinase deficiency is caused by an autosomal recessive trait. Mammals have two pyruvate kinase genes, PK-LR (which encodes for pyruvate kinase isozymes L and R) and PK-M (which encodes for pyruvate kinase isozyme M1), but only PKLR encodes for the red blood isozyme which effects pyruvate kinase deficiency. Over 250 PK-LR gene mutations have been identified and associated with pyruvate kinase deficiency. DNA testing has guided the discovery of the location of PKLR on chromosome 1 and the development of direct gene sequencing tests to molecularly diagnose pyruvate kinase deficiency.<ref>{{cite journal | vauthors = Climent F, Roset F, Repiso A, Pérez de la Ossa P | title = Red cell glycolytic enzyme disorders caused by mutations: an update | journal = Cardiovascular & Hematological Disorders Drug Targets | volume = 9 | issue = 2 | pages = 95–106 | date = June 2009 | pmid = 19519368 | doi = 10.2174/187152909788488636 }}</ref>