Open AccessDiagnostic challenges in pyruvate kinase deficiency
Author(s) -
Ф. Р. Хаджиева,
С. Н. Мушанова,
Т. Н. Кекеева,
И. Н. Лаврентьева,
Е. В. Райкина
Publication year - 2020
Publication title -
voprosy gematologii/onkologii i immunopatologii v pediatrii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.108
H-Index - 3
eISSN - 2414-9314
pISSN - 1726-1708
DOI - 10.24287/1726-1708-2020-19-3-90-94
Subject(s) - pyruvate kinase deficiency , pyruvate kinase , red cell , hemolytic anemia , glycolysis , medicine , biology , enzyme , biochemistry
Red cell pyruvate kinase deficiency is a rare congenital, nonspherocytic hemolytic anemia caused by a glycolytic defect that is due to compound heterozygous or homozygous mutations in the PKLR gene on chromosome 1q21. The article presents analytical review of literature and the clinical case of pyruvate kinase deficiency. Patient's parents agreed to use personal dats and photos in research and publications.