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Updated: Jan 22, 2026

The Murine Choline-Deficient, Ethionine-Supplemented CDE Diet Model of Chronic Liver Injury
Published on: October 21, 2017
Transient liver injury and severe neonatal cholestasis in infant with glucose-6-phosphate dehydrogenase deficiency
D Ben Fredj1, C Barro2, P Joly3
1CS 10217, department of Pediatrics, Grenoble Alpes University Hospital, 38043 Grenoble cedex 09, France.
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.
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