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Article

Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

Molecular genetics and metabolism - 1 Jun 1998

Poudrier J, Lettre F, Scriver C R, Larochelle J, Tanguay R M

Abstract excerpt

Hereditary tyrosinemia type I (HTI, McKusick 276700) is an autosomal recessive disease caused by deficient fumarylacetoacetate hydrolase (FAH, EC 3.7.1.2) activity. HTI is characterized by progressive liver dysfunction with nodular cirrhosis often leading to hepatocellular carcinoma. Two extremes of the clinical phenotype have been described: the "acute" (severe, early onset and death) and "chronic" (delayed...

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Identifiers

PMID: 9705236
DOI: 10.1006/mgme.1998.2695

Genes

FAH

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

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Mutation spectrum of Tyrosinemia type I in Iran, A retrospective cohort study.Semantic proximity Read ↗

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Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia.Semantic proximity Read ↗

No evidence of maternal cell colonization in reverted liver nodules of tyrosinemia type I patients.Semantic proximity Read ↗

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).Semantic proximity Read ↗

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.Semantic proximity Read ↗

Tyrosinaemia type I — an updateSemantic proximity Read ↗

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