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Am J Hematol. 2019 Jan;94(1):149-161. doi: 10.1002/ajh.25325. Epub 2018 Nov 28.

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.

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UOC Ematologia, Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, California.
Department of Transfusion Medicine and Cell Processing, Faculty of Medicine, Tokyo Women's Medical University, Tokyo, Japan.
University of Utah/ARUP Laboratories, Salt Lake City, Utah.
Special Praxis for Pediatric Hematology and Childrens' Hospital, Technical University, Munich, Germany.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Hematology Division, Massachusetts General Hospital, Boston, Massachusetts.
Hematology Department, University Hospital Center of Coimbra, Coimbra, Portugal.
Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron, Barcelona Hospital Campus, Barcelona, Spain.
Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati, College of Medicine, Cincinnati, Ohio.
APHP-University Hospital Henri Mondor and Inserm IMRB U955eq2, Creteil, France.
Differentiation and Cytometry Unit. Hematopoietic Innovative Therapies Division, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) - Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Advance Therapies Mixed Unit, Instituto de Investigación Sanitaria-Fundación Jimenez Díaz (IIS-FJD), Madrid, Spain.
Van Creveldkliniek, University Medical Center Utrecht, University of Utrecht, Utrecht, The Netherlands.
Departments of Pediatrics, Pathology and Genetics, Yale University School of Medicine, New Haven, Connecticut.
Department of Paediatric Haematology, King's College Hospital, London, United Kingdom.
Department of Clinical Chemistry and Haematology, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.


Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding its frequency. 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.

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