A previously unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice

Neonatology. 2014;106(2):140-2. doi: 10.1159/000363219. Epub 2014 Jun 24.

Abstract

We report a neonate with early and severe hemolytic jaundice and low erythrocyte pyruvate kinase enzymatic activity (<2 U/g hemoglobin, reference interval 9-22). We found her asymptomatic mother to be heterozygous for a novel PKLR mutation (c.1573delT) with an erythrocyte PK activity of 6.2 U/g hemoglobin. Her asymptomatic father was heterozygous for the common Northern European PKLR mutation (c.1529A) with an erythrocyte PK activity of 3.6 U/g. The neonate was a compound heterozygote with both mutations, but with no other mutations identified by sequencing a panel of 27 genes involved in severe neonatal jaundice.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hemolytic, Congenital Nonspherocytic / diagnosis
  • Anemia, Hemolytic, Congenital Nonspherocytic / enzymology
  • Anemia, Hemolytic, Congenital Nonspherocytic / genetics*
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Infant, Newborn
  • Isoenzymes
  • Jaundice, Neonatal / diagnosis
  • Jaundice, Neonatal / enzymology
  • Jaundice, Neonatal / genetics*
  • Mutation*
  • Pedigree
  • Phenotype
  • Pyruvate Kinase / deficiency*
  • Pyruvate Kinase / genetics*
  • Pyruvate Metabolism, Inborn Errors / diagnosis
  • Pyruvate Metabolism, Inborn Errors / enzymology
  • Pyruvate Metabolism, Inborn Errors / genetics*
  • Severity of Illness Index

Substances

  • Isoenzymes
  • Pyruvate Kinase

Supplementary concepts

  • Pyruvate Kinase Deficiency of Red Cells