PKD Education
CME opportunity/toolkit - Navigating pyruvate kinase deficiency today: How can the disease burden and unmet treatment needs be addressed?
CEU opportunity - Pyruvate Kinase Deficiency, Stat Pearls Publishing, 2020
Prevalence of Pyruvate Kinase Deficiency: a systemic literature review. April 2020 (printable pdf)
PK DEFICIENCY OVERVIEW
MECHANISM OF DISEASE
DIAGNOSTIC PATHWAY
SYMPTOMS AND COMPLICATIONS
RISK OF IRON OVERLOAD
Monitor your patients with PK deficiency from the time of diagnosis - Monitoring Flash Card (pdf)
Management of pyruvate kinase deficiency in children and adults. Blood, Volume 136, Issue 11, September 10 2020,
How we manage patients with pyruvate kinase deficiency British Journal of Haematology,Volume184, Issue5 March 2019 Pages 721-734
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study, Blood, Volume 131, Issue 20, 17 May 2018, Pages 2183-2192
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency Am J Hematol. 2019 January ; 94(1): 149–161. doi:10.1002/ajh.25325.
The variable manifestations of disease in pyruvate kinase deficiency and their management Haematologica 2020 Volume 105(9):2229-2239
Comorbidities and complications in adults with pyruvate kinase deficiency, European Journal of Haematology, Volume106, Issue4 April 2021 Pages 484-492
Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study - Haematologica. 2019 Feb; 104(2): e51–e53.
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Am J Hematol. 2020;95(5):472-482.
Alternative Genetic Testing Resoures (pdf)