Pyruvate kinase deficiency
Enzyme or protein defect
Pyruvate kinase
Accumulates or becomes deficient
2,3-BPG raised; ATP low
Key features
Chronic non-spherocytic haemolytic anaemia; right-shifted O2 curve
Management
Transfusion, splenectomy
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · fetched just now · sorted by publication date
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1
Real-World Experience of Mitapivat in Pyruvate Kinase Deficiency.
Pedone GL, Ricchi P, Ribersani M, Arcioni F, Ceglie T, Mazzi F, Sau A, Solfrizzi MP, Valentini CG, Marcello A… · 2026-09-18
unreviewed -
2
A Tarui Disease Phenotype with Compensated Hemolysis and a Homozygous <i>PFKM</i> Variant of Uncertain Significance Mimicking Chronic Myelomonocytic Leukemia.
Neculcea AC, Aanicai R, Massoto B, Nistor RI, Fierbințeanu-Braticevici C, Mambet C, Mititelu A, Neagu AM, Par… · 2026-09-07
open access unreviewed - 3
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4
Bradykinin contributes to vasogenic edema in murine experimental cerebral malaria.
de Sa Pinheiro A, Teixeira DE, Silva-Aguiar RP, Shim YJ, Merkulova AA, Silbak S, Skomorovska-Prokvolit Y, Mid… · 2026-07-14
open access unreviewed -
5
Differential Diagnosis of Anemia Using the Erythrocyte Filterability Method.
Sinauridze EI, Bovt EA, Prudinnik DS, Dolgikh IA, Koleva L, Shakhidzhanov SS, Kushnir NS, Suvorova AS, Protas… · 2026-08-26
open access unreviewed -
6
The feasibility of ovarian tissue cryopreservation in selected females after hematopoietic stem cell transplantation.
Cheng J, Du J, Gu M, Ruan X, Jin F, Jin J, Wang Z, Wu Y, Zhou Q, Li Y, Li Y, Jiang L, Zhang M, Liu A, Wang Y,… · 2026-06-18
open access unreviewed -
7
Two Novel PKLR Variants in Pyruvate Kinase Deficiency: Insights From Clinical, Molecular and Functional Analysis.
Xiang H, Wen Y, Yang M, Jiang J, Li Y, He C, Lin Z, Wei H. · 2026-04-28
unreviewed -
8
Chinese expert consensus on the treatment and diagnosis of moyamoya disease and moyamoya syndrome (2024).
Ni W, Su J, Fei Y, Gu Y, Mao Y, Wang S, Consensus Expert Committee Members. · 2026-08-27
open access unreviewed -
9
Severe Transfusion-Dependent Infantile Hemolytic Anemia Associated With a Novel Homozygous PKLR Variant of Uncertain Significance (c.1376C>G, p.Ala459Gly) and Coexisting G6PD Deficiency: A Case Report.
Hassanien SS, Alasmari BG, Hanafy E, Mansour M, Babiker A. · 2026-07-29
open access unreviewed -
10
Role of Next-Generation Sequencing in Deciphering Congenital Hemolytic Anemia: A Case of Multiple Mutations Leading to Dual Congenital Hemolytic Anemia.
Liu L, Nanduru A, Stringer AD, Ali M, Nassereddine S. · 2026-07-10
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.