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Article

Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype.

Genes - 11 Mar 2023

Neuckermans Jessie, Lequeue Sien, Claes Paul, Heymans Anja, Hughes Juliette H, Colemonts-Vroninks Haaike, Marcélis Lionel, Casimir Georges, Goyens Philippe, Martens Geert A, Gallagher James A, Vanhaecke Tamara, Bou-Gharios George, De Kock Joery

Abstract excerpt

Hereditary tyrosinemia type 1 (HT1) is a genetic disorder of the tyrosine degradation pathway (TIMD) with unmet therapeutic needs. HT1 patients are unable to fully break down the amino acid tyrosine due to a deficient fumarylacetoacetate hydrolase (FAH) enzyme and, therefore, accumulate toxic tyrosine intermediates. If left untreated, they experience hepatic failure with comorbidities involving the renal and...

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Share to Carcinoma, Hepatocellular
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36980965
DOI: 10.3390/genes14030693
PMCID: PMC10047938

Genes

FAH
HPD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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