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Difficulties in the diagnostic workflow and interpretation of PK enzyme assay likely play a role. By the creation of a global PKD International Working Group in 2016, involving 24 experts from 20 Centers of Expertise we studied the current gaps in the diagnosis of PKD in order to establish diagnostic guidelines. By means of a detailed survey and subsequent discussions, multiple aspects of the diagnosis of PKD were evaluated and discussed by members of Expert Centers from Europe, USA, and Asia directly involved in diagnosis. Broad consensus was reached among the Centers on many clinical and technical aspects of the diagnosis of PKD. The results of this study are here presented as recommendations for the diagnosis of PKD and used to prepare a diagnostic algorithm. This information might be helpful for other Centers to deliver timely and appropriate diagnosis and to increase awareness in PKD.<\/jats:p>","DOI":"10.1002\/ajh.25325","type":"journal-article","created":{"date-parts":[[2018,10,25]],"date-time":"2018-10-25T15:58:31Z","timestamp":1540483111000},"page":"149-161","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":90,"title":["Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency"],"prefix":"10.1002","volume":"94","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5976-5233","authenticated-orcid":false,"given":"Paola","family":"Bianchi","sequence":"first","affiliation":[{"name":"UOC Ematologia, Fisiopatologia delle Anemie Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Fermo","sequence":"additional","affiliation":[{"name":"UOC Ematologia, Fisiopatologia delle Anemie Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertil","family":"Glader","sequence":"additional","affiliation":[{"name":"Lucile Packard Children's Hospital Stanford University School of Medicine  Palo Alto California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Kanno","sequence":"additional","affiliation":[{"name":"Department of Transfusion Medicine and Cell Processing Faculty of Medicine, Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5896-5719","authenticated-orcid":false,"given":"Archana","family":"Agarwal","sequence":"additional","affiliation":[{"name":"University of Utah\/ARUP Laboratories  Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1428-9944","authenticated-orcid":false,"given":"Wilma","family":"Barcellini","sequence":"additional","affiliation":[{"name":"UOC Ematologia, Fisiopatologia delle Anemie Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Eber","sequence":"additional","affiliation":[{"name":"Special Praxis for Pediatric Hematology and Childrens\u2019 Hospital Technical University  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James D.","family":"Hoyer","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7855-2409","authenticated-orcid":false,"given":"David J.","family":"Kuter","sequence":"additional","affiliation":[{"name":"Hematology Division Massachusetts General Hospital  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tabita Magalh\u00e3es","family":"Maia","sequence":"additional","affiliation":[{"name":"Hematology Department University Hospital Center of Coimbra  Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria del Mar","family":"Ma\u00f1u\u2010Pereira","sequence":"additional","affiliation":[{"name":"Vall d'Hebron Institut de Recerca (VHIR) Vall d'Hebron, Barcelona Hospital Campus  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodosia A.","family":"Kalfa","sequence":"additional","affiliation":[{"name":"Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center and Department of Pediatrics University of Cincinnati, College of Medicine  Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Pissard","sequence":"additional","affiliation":[{"name":"APHP\u2010University Hospital Henri Mondor and Inserm IMRB U955eq2  Creteil France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9\u2010Carlos","family":"Segovia","sequence":"additional","affiliation":[{"name":"Differentiation and Cytometry Unit. 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