pyruvate kinase deficiency
Last edited 04/2022 and last reviewed 09/2022
Pyruvate kinase deficiency is a rare cause of inherited haemolytic anaemia especially in Northern European populations. Pyruvate kinase catalyses the last step of glycolysis, which is the conversion of phosphoenolpyruvate to pyruvate, with the formation of one molecule of ATP from ADP.
It has an autosomal recessive mode of inheritance.
Mitapivat, an oral, first-in-class activator of erythrocyte pyruvate kinase, increased the hemoglobin level in patients with pyruvate kinase deficiency (1):
- in patients with pyruvate kinase deficiency, mitapivat significantly increased the hemoglobin level, decreased hemolysis, and improved patient-reported outcomes
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