Pyruvate Kinase Deficiency

Pyruvate Kinase Deficiency

Pyruvate kinase deficiency is a genetic disorder affecting red blood cells, leading to haemolytic anaemia. This enzyme defect impairs glycolysis, causing reduced ATP production. Symptoms include fatigue, jaundice, and splenomegaly. Diagnosis is through blood tests and genetic screening. Treatments focus on managing anaemia and may involve blood transfusions or splenectomy.