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Relative red blood cell enzyme levels as a clue to the diagnosis of pyruvate kinase deficiency
Author(s) -
Titapiwatanakun Ruetima,
Hoyer James D.,
Crain Karen,
Arndt Carola A.S.
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21720
Subject(s) - pyruvate kinase deficiency , medicine , pyruvate kinase , enzyme , red cell , red blood cell , biochemistry , glycolysis , metabolism , biology
Evaluation of two patients with transfusion dependent anemia revealed RBC pyruvate kinase to be 33% and 41% of the mean normal value, with normal or high values of other RBC enzymes. Parental PK activities were just below normal in three of four of the parents. Subsequent DNA analysis revealed both patients to be compound heterozygotes for PKLR gene mutations, two of which are previously undescribed. Borderline low pyruvate kinase activities with increased in other RBC enzyme activities should prompt consideration of measurement of parental enzyme activities, and confirmation by DNA analysis if available. Pediatr Blood Cancer 2008;51:819–821. © 2008 Wiley‐Liss, Inc.