Editing Pyruvate kinase deficiency (section)

==Treatment==
Most affected individuals with pyruvate kinase deficiency do not require treatment. Those individuals who are more severely affected may die in utero of [[anemia]] or may require intensive treatment. With these severe cases of pyruvate kinase deficiency in red blood cells, treatment is the only option, there is no cure. However, treatment is usually effective in reducing the severity of the symptoms.<ref name="patient" /><ref>{{Cite book|url=https://books.google.com/books?id=qN6VebjNBfgC|title=Medicine at a Glance|last=Davey|first=Patrick|date=2010-02-01|publisher=John Wiley & Sons|isbn=9781405186162|page=341|language=en}}</ref>

The most common treatment is [[blood transfusion]]s, especially in infants and young children. This is done if the red blood cell count has fallen to a critical level.<ref name=":6">{{Cite journal|last1=Zanella|first1=A.|last2=Bianchi|first2=P.|last3=Fermo|first3=E.|date=2007-06-01|title=Pyruvate kinase deficiency|journal=Haematologica|language=en|volume=92|issue=6|pages=721–723|doi=10.3324/haematol.11469|pmid=17550841|issn=0390-6078|doi-access=free}}</ref> The [[Hematopoietic stem cell transplantation|transplantation of bone marrow]] has also been conducted as a treatment option.<ref name=":4">{{Cite journal|last1=Zanella|first1=Alberto|last2=Fermo|first2=Elisa|last3=Bianchi|first3=Paola|last4=Valentini|first4=Giovanna|date=2005-07-01|title=Red cell pyruvate kinase deficiency: molecular and clinical aspects|journal=British Journal of Haematology|language=en|volume=130|issue=1|pages=11–25|doi=10.1111/j.1365-2141.2005.05527.x|pmid=15982340|issn=1365-2141|doi-access=free}}</ref>

There is a natural way the body tries to treat this disease. It increases the [[Red blood cell|erythrocyte]] production ([[reticulocytosis]]) because reticulocytes are immature red blood cells that still contain mitochondria and so can produce ATP via [[oxidative phosphorylation]].<ref name=":8">{{Cite journal|last1=Wijk|first1=Richard van|last2=Solinge|first2=Wouter W. van|date=2005-12-15|title=The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis|journal=Blood|language=en|volume=106|issue=13|pages=4034–4042|doi=10.1182/blood-2005-04-1622|issn=0006-4971|pmid=16051738|doi-access=free}}</ref> Therefore, a treatment option in extremely severe cases is to perform a [[splenectomy]]. This does not stop the destruction of erythrocytes but it does help increase the amount of reticulocytes in the body since most of the [[hemolysis]] occurs when the reticulocytes are trapped in the hypoxic environment of the spleen. This reduces severe anemia and the need for blood transfusions.<ref name=":3"/>

[[Mitapivat]] was approved for medical use in the United States in February 2022.<ref name="Agios PR">{{cite press release | title=Agios Announces FDA Approval of Pyrukynd (mitapivat) as First Disease-Modifying Therapy for Hemolytic Anemia in Adults with Pyruvate Kinase Deficiency | publisher=Agios Pharmaceuticals | via=GlobeNewswire | date=17 February 2022 | url=https://www.globenewswire.com/news-release/2022/02/17/2387542/31990/en/Agios-Announces-FDA-Approval-of-PYRUKYND-mitapivat-as-First-Disease-Modifying-Therapy-for-Hemolytic-Anemia-in-Adults-with-Pyruvate-Kinase-Deficiency.html | access-date=19 February 2022}}</ref>