SynthesisEuropean journal of haematology2020
Prevalence of pyruvate kinase deficiency: A systematic literature review.
Synthesis in European journal of haematology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Prevalence of pyruvate kinase deficiency: A systematic literature review.European journal of haematology · 2020Pooled it
- Psychometric validation of the Pyruvate Kinase Deficiency Diary and Pyruvate Kinase Deficiency Impact Assessment in adults in the phase 3 ACTIVATE trial.Journal of patient-reported outcomes · 2023Trial
- Two Novel PKLR Variants in Pyruvate Kinase Deficiency: Insights From Clinical, Molecular and Functional Analysis.International journal of laboratory hematology · 2026Article
- [Clinical analysis of six patients with pyruvate kinase deficiency caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Expanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency.Annals of hematology · 2026Article
- The Molecular Pathology of Non-Malignant Haematological Disease.British journal of biomedical science · 2026Review
- Pyruvate Kinase Deficiency: Markedly Decreased Reticulocyte PK Activity and Limited Specificity of the PK/HK Ratio.International journal of molecular sciences · 2025Article
- Neonatal Hemolytic Jaundice: Causes, Diagnostic Approach, and Management.Children (Basel, Switzerland) · 2025Review
- Overall Survival of Patients With Pyruvate Kinase Deficiency in the UK: A Real-World Study.EJHaem · 2025Article
- Efficacy and Safety of Mitapivat in Pyruvate Kinase Deficiency: A Systematic Review and Meta-analysis of Clinical Trials.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2025Article
- Article
- Pyruvate kinase activators for treatment of pyruvate kinase deficiency.Hematology. American Society of Hematology. Education Program · 2023Article
- Review
- An innovative phase I study in healthy subjects to determine the mass balance, elimination, metabolism, and absolute bioavailability of mitapivat.Clinical and translational science · 2023Article
- Treating pyruvate kinase deficiency with Mitapivat: a short communication.Annals of medicine and surgery (2012) · 2023Article
- Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.Annals of hematology · 2023Article
- The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design.BMJ open · 2023Article
- Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency.Scientific reports · 2023Article
- Pyruvate kinase activator: A major breakthrough in the world of Hematology.Annals of medicine and surgery (2012) · 2022Article
- Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.PLoS genetics · 2022Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
objectivesPyruvate kinase deficiency (PK deficiency) is a rare disorder caused by compound heterozygosity or homozygosity for > 300 mutations in the PKLR gene. To understand PK deficiency prevalence, we conducted a systematic literature review.
methodsWe queried Embase and Medline for peer-reviewed references reporting PK deficiency prevalence/incidence, PKLR mutant allele frequency (MAF) among the general population, or crude results from which these metrics could be derived.
resultsOf 1390 references screened, 1296 were excluded after title/abstract review; 60 were excluded after full-text review. Four of the remaining 34 studies were considered high-quality for estimating PK deficiency prevalence. Two high-quality studies identified cases from source populations of known sizes, producing estimates of diagnosed PK deficiency prevalence of 3.2 and 8.5 per million. Another high-quality study derived an estimate of diagnosed PK deficiency prevalence of 6.5 per million by screening jaundiced newborns. The final high-quality study estimated total diagnosed and undiagnosed PK deficiency prevalence to be 51 per million through extrapolation from observed MAFs.
conclusionsWe conclude that prevalence of clinically diagnosed PK deficiency is likely between 3.2 and 8.5 per million in Western populations, while the prevalence of diagnosed and undiagnosed PK deficiency could possibly be as high as 51 per million.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.