Pyruvate kinase deficiency

Pyruvate kinase deficiency, abbreviated PKD, is an inherited metabolic disorder of the enzyme pyruvate kinase that affects how long red blood cells survive. Both autosomal dominant and autosomal recessive inheritance have been observed, but the classic and more common pattern is autosomal recessive. Because red blood cells depend on this enzyme, a shortage shortens their lifespan and the result is hemolytic anemia. Pyruvate kinase deficiency is the second most common cause of enzyme-deficient hemolytic anemia, following G6PD deficiency. Its place in the record is as a representative inherited enzyme defect of red cell metabolism, one of the conditions where a single missing or faulty enzyme explains a whole pattern of disease in the blood.