Mutations in pyruvate kinase

Hum Mutat. 1996;7(1):1-6. doi: 10.1002/(SICI)1098-1004(1996)7:1<1::AID-HUMU1>3.0.CO;2-H.

Abstract

Pyruvate kinase (PK) deficiency due to mutations of the PKLR gene is a common cause of hereditary nonspherocytic hemolytic anemia. Thus far, 55 different mutations have been described in patients with PK-deficient hemolytic anemia. Polymorphisms within the PKLR gene and in the tightly linked glucocerebrosidase (GBA) gene suggest that PK deficiency may represent a balanced polymorphism.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Anemia, Hemolytic, Congenital Nonspherocytic / diagnosis
  • Anemia, Hemolytic, Congenital Nonspherocytic / ethnology
  • Anemia, Hemolytic, Congenital Nonspherocytic / genetics*
  • Chromosome Mapping
  • Female
  • Glucosylceramidase / genetics
  • Humans
  • Male
  • Mutation*
  • Polymorphism, Genetic*
  • Pyruvate Kinase / deficiency*
  • Pyruvate Kinase / genetics*
  • Structure-Activity Relationship

Substances

  • Pyruvate Kinase
  • Glucosylceramidase