Transient liver injury and severe neonatal cholestasis in infant with glucose-6-phosphate dehydrogenase deficiency due to a new mutation

Arch Pediatr. 2019 Sep;26(6):370-373. doi: 10.1016/j.arcped.2019.05.005. Epub 2019 Jul 2.

Abstract

We report the case of a neonate with a new, previously undescribed, glucose-6-phosphate dehydrogenase (G6PD) gene mutation, which was revealed by severe cholestasis, hyperbilirubinemia, and transient liver dysfunction. The severity of the clinical phenotype with ongoing chronic hemolytic anemia suggests that this mutation belongs to class 1 G6PD deficiency. The hemizygous mutation «c.675G>c; p.Trp225Cys» was detected by genomic sequencing. Since severe G6PD deficiency can be revealed by cholestasis, it is important to check G6PD enzyme activity when faced with a case of liver dysfunction in the neonatal period.

Keywords: Cholestasis; G6PD deficiency; Hemolysis; Hyperbilirubinemia; Liver insufficiency; New mutation.

Publication types

  • Case Reports

MeSH terms

  • Cholestasis / diagnosis
  • Cholestasis / etiology*
  • Genetic Markers
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase Deficiency / complications
  • Glucosephosphate Dehydrogenase Deficiency / diagnosis*
  • Glucosephosphate Dehydrogenase Deficiency / genetics
  • Hepatic Insufficiency / diagnosis
  • Hepatic Insufficiency / etiology*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation*

Substances

  • Genetic Markers
  • G6PD protein, human
  • Glucosephosphate Dehydrogenase