Cited by 167Metabolism and Genetic DisordersAmino Acid Enzymes and MetabolismGlycogen Storage Diseases and Myoclonus

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The Pathophysiology and Treatment of Hereditary Tyrosinemia Type 1

Grompe, Markus·2001·Seminars in Liver Disease

DOI 10.1055/s-2001-19035

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Abstract

The topic of this review is hepatorenal tyrosinemia (hereditary tyrosinemia type 1 [HT1], or fumarylacetoacetate hydrolase deficiency; OMIM# 276700). HT1 is the most serious and common of the genetic defects in tyrosine degradation. In addition, this disorder has importance as a model of spontaneous self-correction of liver disease, as a model of liver repopulation by transplanted cells and gene therapy, and as a genetic cause of hepatocarcinoma. However, other forms of hypertyrosinemia exist; hence, the differential diagnosis also will be described briefly. Recent years have seen much progress in our understanding of the molecular basis, the pathophysiology, and especially the treatment of HT1. The current intervention with 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) therapy has improved the outcome of this once devastating disorder. The successful repopulation of the HT1 liver with transplanted cells and positive results in the use of gene therapy in animal models may someday lead to therapy in humans that will obviate the need for life-long dietary and pharmacological therapy.

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Authors: Grompe, M.
Affiliations: Oregon Health & Science University (US)
Corresponding author: Grompe, Markus
ORCID: Grompe, Markus
Venue: Seminars in Liver Disease
Publisher: Georg Thieme Verlag KG
Published: 2001
Volume: 21
Issue: 04
Pages: 563-572
ISSN: 0272-8087 (ISSN-L)
1098-8971
DOI: 10.1055/s-2001-19035
OpenAlex: W2022449977
Semantic Scholar: b052e17377cc56df7ac16c995702a40e45e433db
Cited by: 167
References: 78
Citations by year: 2026: 2 · 2025: 1 · 2024: 6 · 2023: 3 · 2022: 6 · 2021: 7 · 2020: 10 · 2019: 5 · 2018: 6 · 2017: 9 · 2016: 6 · 2015: 7 · 2014: 3 · 2013: 3 · 2012: 9
FWCI: 3.08
Type: journal article
Language: en
Open access: closed
Locations: Seminars in Liver Disease (publishedVersion)
PubMed (publishedVersion)
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: tyrosinemia type I, fumarylacetoacetate hydrolase deficiency, tyrosine degradation, liver transplantation, gene therapy, hepatocellular carcinoma, hypertyrosinemia, differential diagnosis, pathophysiology, dietary therapy
MeSH terms: Animals, Humans, Infant, Newborn, Tyrosinemias, Mice

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The Pathophysiology and Treatment of Hereditary Tyrosinemia Type 1

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