Pyruvate kinase deficiency

Pyruvate kinase deficiency is an inherited disorder caused by a mutation in the gene that codes for the enzyme pyruvate kinase. This enzyme is responsible for catalyzing the breakdown of glucose to form pyruvate. Without functional pyruvate kinase, the body is unable to properly convert glucose into energy, which affects the survival of red blood cells and causes them to break down (hemolysis). Symptoms include anemia, fatigue, splenomegaly, and jaundice. Treatment options include blood transfusions, splenectomy for massive splenomegaly, or allogeneic bone marrow transplantation.