Disease

Pyruvate kinase deficiency1, 2, 3

Gene

PKLR

Inheritance AR
Current Treatments Mitapivat. red cell transfusion
Evidence for Treatment guideline4
Non-Molecular Testing Availability yes
Non-Molecular Test complete blood count and red cell pyruvate kinase activity5
Disease Frequency (per 100,000) 36
Genes Included in Disease Frequency PKLR
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Pyruvate+Kinase+Deficiency&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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