Cited by 312Metabolism and Genetic DisordersAmino Acid Enzymes and MetabolismGlycogen Storage Diseases and Myoclonus

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Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I

Grompe, Markus, Lindstedt, Sven, Al-Dhalimy, Muhsen, Kennaway, Nancy G., Papaconstantinou, John, Torres-Ramos, Carlos A., Ou, Ching-Nau, Finegold, Milton·1995·Nature Genetics

DOI 10.1038/ng0895-453

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Abstract

Hereditary tyrosinaemia type I, a severe autosomal recessive metabolic disease, affects the liver and kidneys and is caused by deficiency of fumarylacetoacetate hydrolase (FAH). Mice homozygous for a FAH gene disruption have a neonatal lethal phenotype caused by liver dysfunction and do not represent an adequate model of the human disease. Here we demonstrate that treatment of affected animals with 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3-cyclohexanedione abolished neonatal lethality, corrected liver function and partially normalized the altered expression pattern of hepatic mRNAs. The prolonged lifespan of affected animals resulted in a phenotype analogous to human tyrosinaemia type I including hepatocellular carcinoma. The adult FAH-/- mouse will serve as useful model for studies of the pathophysiology and treatment of hereditary tyrosinaemia type I as well as hepatic cancer.

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Authors: Grompe, M., Lindstedt, S., Al-Dhalimy, M., Kennaway, N. G., Papaconstantinou, J., Torres-Ramos, C. A., Ou, C.-N., & Finegold, M.
Affiliations: Oregon Health & Science University (US)
Sahlgrenska University Hospital (SE)
The University of Texas Medical Branch at Galveston (US)
Texas Children's Hospital (US)
ORCID: Grompe, Markus
Finegold, Milton
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1995-08
Volume: 10
Issue: 4
Pages: 453-460
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng0895-453
OpenAlex: W2073223227
Semantic Scholar: 475d9ce000d032d0d790441f5db803f2c24584d3
Cited by: 312
References: 50
Citations by year: 2026: 5 · 2025: 6 · 2024: 4 · 2023: 7 · 2022: 13 · 2021: 10 · 2020: 16 · 2019: 9 · 2018: 10 · 2017: 17 · 2016: 11 · 2015: 16 · 2014: 11 · 2013: 11 · 2012: 16
FWCI: 5.26
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: National Institute of Diabetes and Digestive and Kidney Diseases (R01DK048252, DK48252-02)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
Keywords: fumarylacetoacetate hydrolase, neonatal lethality, liver dysfunction, pharmacotherapy, hepatocellular carcinoma, hepatic gene expression, disease models
MeSH terms: alpha-Fetoproteins, Amino Acid Metabolism, Inborn Errors, Amino Acids, Animals, Cyclohexanones, Disease Models, Animal, Enzyme Inhibitors, Female, Heptanoates, Humans, Hydrolases, Liver, Liver Diseases, Liver Neoplasms, Male, Mice, Inbred C57BL, Nitrobenzoates, Pancreas, RNA, Messenger, Tyrosine, Mice

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Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I

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