Educational Material
Compiled educational resources with additional information on PK deficiency for patients and healthcare professionals.
This document aims to bring together available information about PKD in an effort to identify gaps, and to make suggestions in the form of a “Charter of Priorities” (CoP).
A key advocacy tool, CoP’s are used internationally by patient organizations to not only provide comprehensive background information but also recognize the necessary policy and other changes necessary to improve the lives and health of patients.
This CoP for PKD can provide the basis for advocacy actions of the wider international PKD community, i.e. patients, caregivers, advocates, and clinical experts enabling them to act with a united voice, and is customizable for specific national, regional, or global needs.
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Due to the rarity of PK deficiency, an understanding of its overall burden on patients’ lives remains limited.
This educational brochure seeks to explore how signs and symptoms of PK deficiency impact adult patients’ health‐related quality of life, often leading to risks for serious, long-term complications and comorbidities.
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Pyruvate kinase deficiency is a rare genetic disease that causes red blood cells to break apart.
This superbly illustrated workbook is designed to help patients equip themselves with the best information about their condition to improve the conversations they have about it with their doctors and nurses.
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Despite an ever-growing understanding of the PK deficiency disease, it remains unfamiliar to many healthcare professionals.
This superbly illustrated workbook is designed to help healthcare professionals equip themselves with the best information about this condition and improve the conversations they have about it with their patients.
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Translational and clinical researchers are now working on the development of treatments that might address the underlying problem in PK deficiency.
What are these new developments? Could future therapies change the ways in which patients with PK deficiency live with their condition?
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Keeping track of goals, obstacles, and questions can help make sure you and your healthcare team come up with the right management plan for your PK deficiency.
Download this discussion guide to help you get organized, make connections, and advocate for yourself as you prepare to meet with your doctor.
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- The variable manifestations of disease in pyruvate kinase deficiency and their management (2020)
- Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency (2020)
- AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes (2020)
- How we manage patients with pyruvate kinase deficiency (2019)
- Development of the pyruvate kinase deficiency diary and pyruvate kinase deficiency impact assessment: Disease-specific assessments (2019)
- Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study (2019)
- Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency (2019)
- The burden of disease in pyruvate kinase deficiency: Patients’ perception of the impact on health-related quality of life (2018)
- Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study (2018)
- Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency (2018)