Editing Pyruvate kinase deficiency (section)

==Signs and symptoms==
[[File:Gallstones.PNG|thumb|[[Gallstones]]]]
Symptoms can be extremely varied among those suffering from pyruvate kinase deficiency. The majority of those suffering from the disease are detected at birth while some only present symptoms during times of great physiological stress such as pregnancy, or with acute illnesses ([[virus|viral]] disorders).<ref name=":7">{{Cite journal|last=Gordon-Smith|first=E.C.|year=1974|title=Pyruvate kinase deficiency|url= |journal=Journal of Clinical Pathology|volume=s3-8|issue=1|pages=128–133|doi=10.1136/jcp.27.suppl_8.128|pmid=4536359|pmc=1347209}}</ref> Symptoms are limited to or most severe during childhood.<ref name=":3"/> Among the symptoms of pyruvate kinase deficiency are:<ref name=":3">{{Cite web|title = Pyruvate Kinase Deficiency Clinical Presentation: History and Physical Examination|url = http://emedicine.medscape.com/article/2196589-clinical|website = emedicine.medscape.com|access-date = 2015-11-11}}</ref>
* Mild to severe hemolytic [[anemia]]
* [[Cholecystolithiasis]]
* [[Tachycardia]]
* [[Iron overload|Hemochromatosis]]
* Icteric sclera
* [[Splenomegaly]]
* Leg [[ulcers]]
* [[Jaundice]]
* [[Fatigue]]
* [[Shortness of breath]]

The level of 2,3-bisphosphoglycerate is elevated: 1,3-bisphosphoglycerate, a precursor of [[phosphoenolpyruvate]] which is the substrate for Pyruvate kinase, is increased and so the [[Luebering-Rapoport pathway]] is overactivated. This led to a rightward shift in the oxygen dissociation curve of hemoglobin (i.e. it decreases the hemoglobin affinity for oxygen): In consequence, patients may tolerate anemia surprisingly well.<ref>{{cite book|last1=al.]|first1=Ronald |title=Hematology basic principles and practice|date=2013|publisher=Saunders/Elsevier|location=Philadelphia, PA|isbn=9781455740413|page=703|edition= 6th}}</ref>