Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

pyruvate kinase hyperactivity - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pyruvate kinase hyperactivity

MONDO:0007067

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 Sep 19, 2026, 11:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

View all PAGs →

Pyruvate Kinase Deficiency International Alliance

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

Are you a patient organization not listed here? Claim this page to be listed and embed this content on your site — free.

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:102900

Questions for Your Care Team

→Should I pursue genetic testing for PKLR, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Pyruvate Kinase Deficiency International Alliance and other patient organizations for support?

← Back to All Diseases

pyruvate kinase hyperactivity

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications