Pyruvate Kinase Deficiency | Symptoms, Pathophysiology, and Treatment

The video tutorial explains pyruvate kinase deficiency (PKD), an autosomal recessive disorder causing hemolytic anemia due to a deficiency in the pyruvate kinase enzyme. It covers the pathophysiology, including the impact on the glycolytic pathway and ATP production, leading to red blood cell deformities and removal by the spleen. The video also discusses symptoms like anemia, jaundice, and splenomegaly, diagnostic methods such as blood smears and enzyme activity tests, and treatment options including transfusions and splenectomy.

Describe the role of the spleen in the context of PKD.

What complications can arise from chronic hemolytic anemia due to PKD?

What treatment options are available for individuals with PKD?