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 · from cache · sorted by publication date
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1
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 -
2
Normal thromboelastography with a markedly prolonged activated partial thromboplastin time in severe prekallikrein deficiency: Implications for perioperative hemostatic assessment.
Jacobs JW, Matafonov A, Baxter PG, Cheng Q, Booth GS, Sharma D, Tillman BF, Gailani D. · 2026-07-15
unreviewed -
3
Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies.
Joshi G, Natarajan N, Dickerson KE, Voit RA. · 2026-07-14
unreviewed - 4
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6
Emerging perspectives in proteostasis: bridging mechanisms and therapeutics for human diseases.
Borlepawar A, Neu M, Ma Z, Deshpande A, Bühringer H, Hajieva P, Frey N, Rangrez AY. · 2026-06-09
open access unreviewed -
7
The pyruvate kinase activator etavopivat (FT-4202) limits pulmonary and systemic sequelae of sepsis in a mouse LPS model.
Chen Y, Zhu H, Zhang L, Mai W, Chow SC, Chin DWL, Guichard S, Carden M, Jagadish A, Estupinan RA, Welsby I, M… · 2026-04-13
unreviewed -
8
Hereditary Hemolytic Spherocytosis in the Active-Duty Population: A Unique Case.
Ahn D, Berenberg J. · 2026-05-20
open access unreviewed -
9
Late Recognition of Glucose-6-Phosphate Dehydrogenase Deficiency in a 70-Year-Old Man: A Case Report.
Huynh J, Eisenbud L, Gutierrez R, Chuang FL, Dichter D. · 2026-05-04
open access unreviewed -
10
[Clinical analysis of six patients with pyruvate kinase deficiency caused by <i>PKLR</i> variants].
Wang W, Zhao YX, Wang LZ, Jiang F, Yang J, Sun LR, Xu HJ. · 2026-05-01
unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.