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 enzymatic defects of the red blood cell which can cause hemolytic anemia. Pyruvate kinase deficiency is the second most common cause of enzymatic-related hemolytic anemia. (G-6-PD deficiency is the number one cause.)
Pyruvate kinase deficiency may produce mild or severe hemolysis 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. Occasionally, it is not discovered until adulthood in mild cases.
Although pyruvate kinase deficiency is found in people of all ethnic backgrounds, certain populations, such as the Amish, have a somewhat higher incidence.
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