Relative red blood cell enzyme levels as a clue to the diagnosis of pyruvate kinase deficiency

Pediatric Blood & Cancer
Ruetima TitapiwatanakunCarola A S Arndt

Abstract

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.

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Citations

Feb 3, 2016·Pediatric Blood & Cancer·Patrick G Gallagher, Bertil Glader
Jun 20, 2015·American Journal of Hematology·Rachael F GraceBertil Glader
May 19, 2009·BMC Systems Biology·Seth B RobertsGregory A Buck
Jul 25, 2020·Haematologica·Paola Bianchi, Elisa Fermo
Jan 20, 2018·Pediatric Transplantation·Yunyan HeNing Liao
Jun 17, 2020·International Journal of Laboratory Hematology·Archana M Agarwal, Anton Rets
Oct 16, 2020·Haematologica·Paola Bianchi, Elisa Fermo

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