Table 5.

Genes of Interest in the Differential Diagnosis of Neonatal Hepatotoxicity

Gene(s)DisorderMOIComment
ALDOB Hereditary fructose intolerance ARMay present in infancy w/growth failure, liver disease, renal tubular dysfunction, & abnormal transferrin glycans as in PMM2-CDG
ATP8B1 Severe ATP8B1 deficiency (progressive familial intrahepatic cholestasis)AROnset of symptoms of cholestasis (& attacks of jaundice) w/in 1st mos of life
FAH Tyrosinemia type 1 ARUsually presents either in young infants w/severe liver involvement or later in 1st yr w/liver dysfunction & renal tubular dysfunction assoc w/growth failure & rickets
JAG1

NOTCH2

Alagille syndrome ADIn most affected persons liver disease presents w/in 1st 3 mos of life; severity of liver disease ranges from asymptomatic ↑s of liver enzymes to jaundice, chronic cholestasis, & end-stage liver disease.
NPC1

NPC2

Niemann-Pick disease type C ARManifestations in perinatal period & infancy are predominantly visceral, w/hepatosplenomegaly, jaundice, & (in some instances) pulmonary infiltrates.
SLC25A13 Citrin deficiency ARCan manifest in newborns or infants as neonatal intrahepatic cholestasis

AD = autosomal dominant; AR = autosomal recessive; CDG = congenital disorders of glycosylation; MOI = mode of inheritance

From: Classic Galactosemia and Clinical Variant Galactosemia

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.