PKLR AR unreviewed
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
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