pyruvatkinázhiány

Pyruvatkinázhiány, also known as PK deficiency, is a rare genetic disorder that affects red blood cells. It is an autosomal recessive condition, meaning an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease. The deficiency arises from mutations in the PKLR gene, which provides instructions for making the enzyme pyruvate kinase. This enzyme is crucial for the final step of glycolysis, a process that produces energy in the form of ATP within red blood cells.

When pyruvate kinase is deficient, red blood cells cannot efficiently produce ATP. This energy deficit leads to premature destruction of the red blood cells, a condition known as hemolytic anemia. The severity of PK deficiency can vary widely, from mild anemia to severe, life-threatening conditions. Symptoms often include fatigue, jaundice, enlarged spleen (splenomegaly), and gallstones. Diagnosis typically involves blood tests to measure pyruvate kinase activity and genetic testing to identify mutations in the PKLR gene. Treatment options depend on the severity and may include blood transfusions, splenectomy, and in some cases, bone marrow transplantation.