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Hereditary Tyrosinemia

Pathogenesis, Screening and Management

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  • © 2017

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Overview

Editors:
  1. Robert M. Tanguay

    1. Department of Molecular Biology, Medical Biochemistry and Pathology, Medical School, Université Laval, Québec, Canada

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  • A comprehensive account of Tyrosinemia
  • Written by some of the world’s leading experts in this field
  • Latest in-depth reviews on this important metabolic disease

Part of the book series: Advances in Experimental Medicine and Biology (AEMB, volume 959)

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About this book

Hereditary tyrosinemia type 1 (HT1), the most severe inborn error of the tyrosine degradation pathway, is due to a deficiency in fumarylacetoacetate hydrolase (FAH). The worldwide frequency of HT1 is one per 100,000 births, but some regions have a significantly higher incidence (1:1,800). The FAH defect results in the accumulation of toxic metabolites, mainly in the liver. If left untreated, HT1 is usually fatal before the age of two. HT1 patients develop several chronic complications including cirrhosis with a high risk of hepatocellular carcinoma (HCC) and neuropsychological impairment. Treatment comprises an inhibitor of the pathway, Nitisinone, a strict dietary treatment or liver transplantation. Early treatment is important to avoid HCC. The book includes the latest developments on the molecular basis of HT1, its pathology, screening and diagnosis and management of the disease written by leading scientists, geneticists, hepatologists and clinicians in the field.

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Table of contents (21 chapters)

  1. Front Matter

    Pages i-xv
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  2. Hereditary Tyrosinemia Type I

    1. Front Matter

      Pages 1-1
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    2. Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean

      • Jean Larochelle
      Pages 3-8
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    3. Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1

      • Geneviève Morrow, Robert M. Tanguay
      Pages 9-21
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  3. Molecular Basis of HT1

    1. Front Matter

      Pages 23-23
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    2. Molecular Aspects of the FAH Mutations Involved in HT1 Disease

      • Geneviève Morrow, Francesca Angileri, Robert M. Tanguay
      Pages 25-48
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    3. Molecular Pathogenesis of Liver Injury in Hereditary Tyrosinemia 1

      • Robert M. Tanguay, Francesca Angileri, Arndt Vogel
      Pages 49-64
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  4. Pathology

    1. Front Matter

      Pages 65-65
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    2. Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine

      • Fernando Alvarez, Grant A. Mitchell
      Pages 67-73
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    3. The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec

      • Ugur Halac, Josée Dubois, Grant A. Mitchell
      Pages 75-83
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    4. Liver Transplantation for Hereditary Tyrosinaemia Type 1 in the United Kingdom

      • Patrick McKiernan
      Pages 85-91
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    5. NTBC and Correction of Renal Dysfunction

      • Arianna Maiorana, Carlo Dionisi-Vici
      Pages 93-100
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    6. Liver Cancer in Tyrosinemia Type 1

      • Willem G. van Ginkel, Jan P. Pennings, Francjan J. van Spronsen
      Pages 101-109
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    7. Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients

      • Willem G. van Ginkel, Rianne Jahja, Stephan C. J. Huijbregts, Francjan J. van Spronsen
      Pages 111-122
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  5. Screening

    1. Front Matter

      Pages 123-123
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    2. Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening

      • Anibh M. Das, Sebene Mayorandan, Nils Janzen
      Pages 125-132
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    3. Tyrosinemia Type I in Japan: A Report of Five Cases

      • Kimitoshi Nakamura, Michinori Ito, Yosuke Shigematsu, Fumio Endo
      Pages 133-138
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    4. Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update

      • Yves Giguère, Marie-Thérèse Berthier
      Pages 139-146
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    5. Hepatorenal Tyrosinemia in Mexico: A Call to Action

      • Isabel Ibarra-González, Cecilia Ridaura-Sanz, Cynthia Fernández-Lainez, Sara Guillén-López, Leticia Belmont-Martínez, Marcela Vela-Amieva
      Pages 147-156
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    6. Hereditary Tyrosinemia Type 1 in Turkey

      • Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M. Serif Cansever
      Pages 157-172
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Editors and Affiliations

  • Department of Molecular Biology, Medical Biochemistry and Pathology, Medical School, Université Laval, Québec, Canada

    Robert M. Tanguay

Bibliographic Information

  • Book Title: Hereditary Tyrosinemia

  • Book Subtitle: Pathogenesis, Screening and Management

  • Editors: Robert M. Tanguay

  • Series Title: Advances in Experimental Medicine and Biology

  • DOI: https://doi.org/10.1007/978-3-319-55780-9

  • Publisher: Springer Cham

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2017

  • Hardcover ISBN: 978-3-319-55779-3Published: 10 August 2017

  • Softcover ISBN: 978-3-319-85745-9Published: 12 August 2018

  • eBook ISBN: 978-3-319-55780-9Published: 27 July 2017

  • Series ISSN: 0065-2598

  • Series E-ISSN: 2214-8019

  • Edition Number: 1

  • Number of Pages: XV, 247

  • Number of Illustrations: 17 b/w illustrations, 36 illustrations in colour

  • Topics: Protein Science

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