Pyruvate kinase deficiency (PKD)

Definition:

Pyruvate kinase deficiency (PKD) is an autosomal-recessive enzyme defect of the glycolytic pathway that causes congenital nonspherocytic hemolytic anemia.

References:

[1]. Grace RF, et al. Management of pyruvate kinase deficiency in children and adults. Blood. 2020 Sep 10;136(11):1241-1249. [Content Brief]

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