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Tyrosinemia, Type I

Known as: Hepatorenal Tyrosinemias, Hypertyrosinemias, Type I, Hypertyrosinemia, Type I 
Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe… 
National Institutes of Health

Related topics

Related topics

24 relations
Adult Fanconi syndromeAmino Acid Metabolism, Inborn ErrorsAutosomal recessive inheritanceFAH gene

Broader (1)

Tyrosinemias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2018
Highly Cited
2018
In utero CRISPR-mediated therapeutic editing of metabolic genes
In utero gene editing has the potential to prenatally treat genetic diseases that result in significant morbidity and mortality… 
Highly Cited
2016
Highly Cited
2016
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls
BackgroundHereditary Tyrosinemia type 1 (HT1) is a rare metabolic disorder caused by a defect in the enzyme Fumarylacetoacetate… 
Highly Cited
2004
Highly Cited
2004
Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots.
Review
2001
Review
2001
The Pathophysiology and Treatment of Hereditary Tyrosinemia Type 1
  • M. Grompe
  • Seminars in liver disease (Print)
  • 2001
  • Corpus ID: 34701706
The topic of this review is hepatorenal tyrosinemia (hereditary tyrosinemia type 1 [HT1], or fumarylacetoacetate hydrolase… 
Highly Cited
2001
Highly Cited
2001
Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability.
Patients suffering from the metabolic disease hereditary tyrosinemia type I (HT1), caused by fumarylacetoacetate hydrolase… 
Review
1997
Review
1997
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview
Tyrosinemia type I is an inborn error of metabolism caused by a deficiency in the last enzyme of the tyrosine catabolic pathway… 
Highly Cited
1994
Highly Cited
1994
A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
BACKGROUND Hereditary tyrosinemia type I is an autosomal recessive inborn error of metabolism caused by a deficiency of the… 
Highly Cited
1993
Highly Cited
1993
Rescue of mice homozygous for lethal albino deletions: implications for an animal model for the human liver disease tyrosinemia type 1.
Mice homozygous for specific deletions around the albino locus on chromosome 7 die within the first few hours of birth. They have… 
Highly Cited
1993
Highly Cited
1993
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
Two Norwegian patients with chronic tyrosinemia type I showed > 50% residual fumarylacetoacetase activity in liver samples… 
Review
1986
Review
1986
Hereditary tyrosinemia type I--an overview.
Hereditary tyrosinemia type I is a metabolic disorder of autosomal recessive inheritance. The disorder is characterized by… 
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