Red Blood Cell Enzyme Defects

Erythrocyte metabolism and. Enzyme Defects. Red Blood cells circulate for approximately 120 days without nuclei or cytoplasmic organelles. Components needed for function and survival already are present when erythrocytes reach maturity. Red Blood cells therefore are capable of limited metabolic activity. Pyruvate kinase deficiency. Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. ... Pyruvate kinase deficiency is the second most common cause of enzyme-deficient hemolytic anemia

SYMPTOMS

• Mild to severe hemolytic anemia.
• Cholecystolithiasis.
• Tachycardia.
• Hemochromatosis.
• Icteric sclera.
• Splenomegaly.
• Leg ulcers.
• Jaundice.

CAUSES

• Hemolytic anemia.
• Hemochromatosis (condition that develops when too much iron builds up in the body)
• Hemolytic disease of the newborn.
• Hereditary spherocytosis (rare blood disorder in which defects in the red blood cells cause them to be shaped like spheres and break down easily)
• Iron deficiency anemia.
• Polycythemia.