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Pyruvate Kinase Deficiency

Abstract

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Synonyms of Pyruvate Kinase Deficiency

  • Nonspherocytic Hemolytic Anemia, Congenital with low PK Kinetics

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Red cell pyruvate kinase deficiency is a hereditary blood disorder characterized by a deficiency of the enzyme pyruvate kinase. Physical findings associated with the disorder may include reduced levels of oxygen-carrying hemoglobulin in the blood due to premature destruction of red blood cells (hemolytic anemia); abnormally increased levels of bilirubin in the blood (hyperbilirubinemia); abnormal enlargement of the spleen (splenomegaly); and/or other abnormalities. Pyruvate kinase deficiency is inherited as an autosomal recessive genetic trait. It is one of a group of diseases known as hereditary nonspherocytic hemolytic anemias. (Nonspherocytic refers to the fact that the red blood cells do not assume a spherical shape, as they do with some blood disorders.

Pyruvate Kinase Deficiency Resources

Organizations:

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