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Also known as:adenosine triphosphate, elevated, of erythrocytes
Overview
Autosomal dominant phenotype characterized by increase of red blood cell ATP.
GeneticsAutosomal dominant · PKLR (chr 1)
Patient Orgs1 organizations · Pyruvate Kinase Deficiency International Alliance
Clinical Presentation
Features include: Polycythemia and Reduced erythrocyte 2,3-diphosphoglycerate concentration.
Explore clinical features
Genetic Landscape
PKLR function has not been fully characterized.
Pyruvate kinase hyperactivity is associated with mutations in the PKLR gene on chromosome 1.
Diagnosis
Genetic testing for PKLR is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for pyruvate kinase hyperactivity has been reported in the published literature.
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for pyruvate kinase hyperactivity.
11 publications have been identified in PubMed for pyruvate kinase hyperactivity. Research spans Basic Science / Preclinical (55%), Epidemiology / Natural History (18%), and Diagnostic / Biomarker (9%).
Research Type
Count
% of Total
Laboratory research
6
55%
Data assembled from 5 of 12 sources · Last updated Nov 3, 2026, 8:41 PM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
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