ReviewJournal of blood medicine2022
Pyruvate Kinase Deficiency: Current Challenges and Future Prospects.
Review in Journal of blood medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- Two Novel PKLR Variants in Pyruvate Kinase Deficiency: Insights From Clinical, Molecular and Functional Analysis.International journal of laboratory hematology · 2026Article
- From structural insight to molecule: Integrative molecular simulations identify candidate pyruvate kinase activators.PloS one · 2026Article
- HSC engraftment is enhanced by combining mobilization with anti-C-Kit and Anti-CD47-based conditioning in hematopoietic transplant.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Pyruvate Kinase Deficiency: Markedly Decreased Reticulocyte PK Activity and Limited Specificity of the PK/HK Ratio.International journal of molecular sciences · 2025Article
- Pyruvate kinase deficiency links metabolic perturbations to neurodegeneration and axonal protection.Molecular metabolism · 2025Article
- Scrub Typhus Infection Precipitating Hemolysis in a Patient With G6PD Deficiency: A Case Report.Clinical case reports · 2025Article
- Primary sclerosing cholangitis with PLKR and UGT1A1 mutation manifested as recurrent bile duct stones: A case report.Medicine · 2025Article
- Understanding Rare Anemias: Emerging Frontiers for Diagnosis and Treatment.Journal of clinical medicine · 2024Review
- Article
- Metabolomic analysis of Drosophila melanogaster larvae lacking pyruvate kinase.G3 (Bethesda, Md.) · 2023Article
- Peroxiredoxins in erythrocytes: far beyond the antioxidant role.Journal of molecular medicine (Berlin, Germany) · 2023Review
- Acute-on-Chronic Liver Failure and Successful Liver Transplantation in Pyruvate Kinase Deficiency.ACG case reports journal · 2023Article
- Metabolomic analysis ofbioRxiv : the preprint server for biology · 2023Article
- Treating pyruvate kinase deficiency with Mitapivat: a short communication.Annals of medicine and surgery (2012) · 2023Article
- Biomarker Pursuit: Keeping Current With Novel Biomarkers in Hematology/Oncology.Journal of the advanced practitioner in oncology · 2023Article
- Rise of the planet of rare anemias: An update on emerging treatment strategies.Frontiers in medicine · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disease marked by chronic hemolytic anemia of various severity and frequent complications including gallstones, splenomegaly, iron overload, and others. Disease phenotype is highly heterogeneous and changes over time with children, adolescents and adult patients displaying different transfusion requirement and rates of complications. The diagnosis relies on the initial clinical suspicion in a patient with chronic hemolysis and exclusion of other more common congenital forms of hemolytic anemias; it is supported by the demonstration of reduced PK enzyme activity, and further confirmed by the detection of (homozygous or compound heterozygous) mutations of PKLR gene. Therapy is mainly supportive, with vitamin supplementation and transfusions (based on symptoms and patient growth rather than on fixed Hb thresholds). Splenectomy is widely performed, although it is less effective than in membrane defects and carries thrombotic and infectious risk. In the last decade, the allosteric PK enzyme activator mitapivat showed dramatic clinical benefit in clinical trials and gene therapy is also being studied to substitute the defective enzyme. In this review, we provide an insight in the current challenges of PKD diagnosis and management and discuss the future application of novel drugs and gene therapy, including a focus on quality of life.
Indexed as
Identifiers
What OpenQuestion holds
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.