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

Relative red blood cell enzyme levels as a clue to the diagnosis of pyruvate kinase deficiency 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Pediatric Blood & Cancer Wiley

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

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References (12)

Publisher
Wiley
Copyright
Copyright © 2008 Wiley‐Liss, Inc.
ISSN
1545-5009
eISSN
1545-5017
DOI
10.1002/pbc.21720
pmid
18726918
Publisher site
See Article on Publisher Site

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. Pediatr Blood Cancer 2008;51:819–821. © 2008 Wiley‐Liss, Inc.

Journal

Pediatric Blood & Cancer – Wiley

Published: Dec 1, 2008

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