Pyruvate Kinase Deficiency (PKD) — Symptoms and Treatment

Pyruvate kinase deficiency is an inherited metabolic disorder characterized by a deficiency in the enzyme "pyruvate kinase" causing hemolytic anemia. It is more severe in early presentation, and it has no sex predilection. The majority of the cases occur because of genetic mutation while some may be caused by diseases such as leukemia and refractory sideroblastic anemia. PKD presents with severe anemia, lethargy, fatigue, failure to thrive and associated complications such as heart failure and liver failure. Diagnosis of the disease is manly done by blood studies that show normocytic normochromic anemia with increased reticulocytes without blood loss. The treatment modalities are mainly conservative involving blood transfusion, folic acid supplements and chelation of deposited iron.