Pyruvate kinase deficiency

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Pyruvate kinase deficiency is an inherited deficiency of the enzyme pyruvate kinase, which is used by red blood cells. Without this enzyme, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia).

Pyruvate kinase deficiency is transmitted as an autosomal recessive trait, which means that a child must get the defective gene from both parents to develop the disorder.

There are many different types of enzyme-related defects of the red blood cell that can cause hemolytic anemia. Pyruvate kinase deficiency is the second most common cause, followingG-6-PD deficiency.

Pyruvate kinase deficiency may produce mild or severe hemolysis (red cell breakdown) and anemia. Problems may first appear in the newborn as prolonged jaundice and anemia. Older children may be pale (due to anemia), and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood.

Although pyruvate kinase deficiency is found in people of all ethnic backgrounds, certain populations, such as the Amish, have a somewhat higher incidence.

Review Date: 08/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.