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

Ruetima Titapiwatanakun, James D. Hoyer, Karen Crain, Carola A.S. Arndt

Research output: Contribution to journalArticle

7 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)819-821
Number of pages3
JournalPediatric Blood and Cancer
Volume51
Issue number6
DOIs
StatePublished - Dec 1 2008

Keywords

  • Congenital hemolytic anemia
  • Pyruvate kinase deficiency
  • Red blood cell enzyme deficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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