Molecular heterogeneity of pyruvate kinase deficiency.

Abstract excerpt

Red cell pyruvate kinase (PK) deficiency is the most common glycolytic defect associated with congenital non-spherocytic hemolytic anemia. The disease, transmitted as an autosomal recessive trait, is caused by mutations in the PKLR gene and is characterized by molecular and clinical heterogeneity; anemia ranges from mild or fully compensated hemolysis to life-threatening forms necessitating neonatal exchange...

Topics

• Anemia, Hemolytic, Congenital
• Anemia, Hemolytic, Congenital Nonspherocytic
• Humans
• Mutation
• Pyruvate Kinase
• Pyruvate Metabolism, Inborn Errors