Hereditary Tyrosinemia

Pathogenesis, Screening and Management

  • Robert M. Tanguay

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

Table of contents

  1. Front Matter
    Pages i-xv
  2. Hereditary Tyrosinemia Type I

    1. Front Matter
      Pages 1-1
    2. Geneviève Morrow, Robert M. Tanguay
      Pages 9-21
  3. Molecular Basis of HT1

    1. Front Matter
      Pages 23-23
    2. Geneviève Morrow, Francesca Angileri, Robert M. Tanguay
      Pages 25-48
    3. Robert M. Tanguay, Francesca Angileri, Arndt Vogel
      Pages 49-64
  4. Pathology

    1. Front Matter
      Pages 65-65
    2. Fernando Alvarez, Grant A. Mitchell
      Pages 67-73
    3. Ugur Halac, Josée Dubois, Grant A. Mitchell
      Pages 75-83
    4. Arianna Maiorana, Carlo Dionisi-Vici
      Pages 93-100
    5. Willem G. van Ginkel, Jan P. Pennings, Francjan J. van Spronsen
      Pages 101-109
    6. Willem G. van Ginkel, Rianne Jahja, Stephan C. J. Huijbregts, Francjan J. van Spronsen
      Pages 111-122
  5. Screening

    1. Front Matter
      Pages 123-123
    2. Kimitoshi Nakamura, Michinori Ito, Yosuke Shigematsu, Fumio Endo
      Pages 133-138
    3. Yves Giguère, Marie-Thérèse Berthier
      Pages 139-146
    4. Isabel Ibarra-González, Cecilia Ridaura-Sanz, Cynthia Fernández-Lainez, Sara Guillén-López, Leticia Belmont-Martínez, Marcela Vela-Amieva
      Pages 147-156
    5. Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M. Serif Cansever
      Pages 157-172
  6. Management and Future

    1. Front Matter
      Pages 173-173
    2. Edward A. Lock
      Pages 175-185
    3. The Québec NTBC Study Group, Fernando Alvarez, Suzanne Atkinson, Manon Bouchard, Catherine Brunel-Guitton, Daniela Buhas et al.
      Pages 187-195
    4. Francjan J. van Spronsen, Margreet van Rijn, Uta Meyer, Anibh M. Das
      Pages 197-204
    5. Sophie Carter, Yannick Doyon
      Pages 231-243
  7. Back Matter
    Pages 245-247

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.


Metabolic disease Tyrosinemia Liver cancer Transplantation Newborn screening

Editors and affiliations

  • Robert M. Tanguay
    • 1
  1. 1.Department of Molecular Biology, Medical Biochemistry and Pathology, Medical SchoolUniversité LavalQuébecCanada

Bibliographic information

  • DOI
  • Copyright Information Springer International Publishing AG 2017
  • Publisher Name Springer, Cham
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-319-55779-3
  • Online ISBN 978-3-319-55780-9
  • Series Print ISSN 0065-2598
  • Series Online ISSN 2214-8019
  • Buy this book on publisher's site
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