What is Pyruvate Kinase Deficiency
Pyruvate kinase deficiency is an inherited lack of the enzyme pyruvate kinase (PK), which is used by red blood cells. Without this enzyme, red blood cells break down too easily, resulting in a low level of these cells (hemolytic anemia).
PK deficiency is passed down as an autosomal recessive trait. This means that a child must receive the non-working gene from both parents to develop the disorder.
Pyruvate kinase deficiency is found in people of all ethnic backgrounds. However, certain populations, such as the Amish, are somewhat more likely to develop the condition.
references: nih.gov, scripps.org
Senior Product Manager, Rare Genetic Disease, Agios Pharma, Massachusetts, USA
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