RGD Reference Report - Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I. - Rat Genome Database

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

Authors: Grompe, M  Lindstedt, S  Al-Dhalimy, M  Kennaway, NG  Papaconstantinou, J  Torres-Ramos, CA  Ou, CN  Finegold, M 
Citation: Grompe M, etal., Nat Genet 1995 Aug;10(4):453-60.
RGD ID: 737742
Pubmed: PMID:7545495   (View Abstract at PubMed)
DOI: DOI:10.1038/ng0895-453   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
liver disease  ISOFah (Mus musculus)737742; 737742 RGD 
liver disease  IMP 737742 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fah  (fumarylacetoacetate hydrolase)

Genes (Mus musculus)
Fah  (fumarylacetoacetate hydrolase)

Genes (Homo sapiens)
FAH  (fumarylacetoacetate hydrolase)


Additional Information