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Pyruvate kinase deficiency
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{{Infobox medical condition (new) | name = Pyruvate kinase deficiency | synonyms = Erythrocyte pyruvate kinase deficiency<ref>{{OMIM|266200}}</ref> | image = Phosphoenolpyruvic acid.svg | caption = [[Phosphoenolpyruvate]] | pronounce = | symptoms = Anemia, tachycardia<ref name=:3/> | complications = | onset = | duration = | types = | causes = Mutation in PKLR gene<ref name=hom/> | risks = | diagnosis = Physical exam, [[Complete blood count|CBC]]<ref name=medl/> | differential = | prevention = | treatment = Blood transfusion<ref name=medl/> | medication = | prognosis = | frequency = | deaths = }} '''Pyruvate kinase deficiency''' is an [[heredity|inherited]] [[metabolic disorder]] of the enzyme [[pyruvate kinase]] which affects the survival of [[red blood cell]]s.<ref name="medl">{{Cite web|title = Pyruvate kinase deficiency: MedlinePlus Medical Encyclopedia|url = https://www.nlm.nih.gov/medlineplus/ency/article/001197.htm|website = www.nlm.nih.gov|access-date = 2015-11-11}}</ref><ref>{{Cite web|title = Pyruvate kinase deficiency {{!}} Disease {{!}} Overview {{!}} Genetic and Rare Diseases Information Center (GARD) β an NCATS Program|url = https://rarediseases.info.nih.gov/gard/7514/pyruvate-kinase-deficiency/resources/1|website = rarediseases.info.nih.gov|access-date = 2015-11-11|archive-date = 2015-09-05|archive-url = https://web.archive.org/web/20150905112757/https://rarediseases.info.nih.gov/gard/7514/pyruvate-kinase-deficiency/resources/1|url-status = dead}}</ref> Both [[autosome|autosomal]] [[Dominance (genetics)|dominant]] and [[recessive]] inheritance have been observed with the disorder; classically, and more commonly, the inheritance is [[autosomal recessive]]. Pyruvate kinase deficiency is the second most common cause of enzyme-deficient [[hemolytic anemia]], following [[G6PD deficiency]].<ref name=":0">{{Cite journal|last1=Gallagher|first1=Patrick G.|last2=Glader|first2=Bertil|date=2016-05-01|title=Diagnosis of Pyruvate Kinase Deficiency|journal=Pediatric Blood & Cancer|language=en|volume=63|issue=5|pages=771β772|doi=10.1002/pbc.25922|pmid=26836632|s2cid=42964783|issn=1545-5017}}</ref>
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