Pyruvate kinase deficiency

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 haemoglobin level in patients with pyruvate kinase deficiency:

• in patients with pyruvate kinase deficiency, mitapivat significantly increased the haemoglobin level, decreased haemolysis, and improved patient-reported outcomes

Reference:

1. Al-Samkari H et al. Diagnosis and management of pyruvate kinase deficiency: international expert guidelines. Lancet Haematol. 2024 Mar;11(3):e228-e239