↓ Skip to main content

Hereditary Tyrosinemia

Overview of attention for book
Cover of 'Hereditary Tyrosinemia'

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    Chapter 1 Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean
  3. Altmetric Badge
    Chapter 2 Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1
  4. Altmetric Badge
    Chapter 3 Molecular Aspects of the FAH Mutations Involved in HT1 Disease
  5. Altmetric Badge
    Chapter 4 Molecular Pathogenesis of Liver Injury in Hereditary Tyrosinemia 1
  6. Altmetric Badge
    Chapter 5 Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine
  7. Altmetric Badge
    Chapter 6 The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec
  8. Altmetric Badge
    Chapter 7 Liver Transplantation for Hereditary Tyrosinaemia Type 1 in the United Kingdom
  9. Altmetric Badge
    Chapter 8 NTBC and Correction of Renal Dysfunction
  10. Altmetric Badge
    Chapter 9 Liver Cancer in Tyrosinemia Type 1
  11. Altmetric Badge
    Chapter 10 Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients
  12. Altmetric Badge
    Chapter 11 Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening
  13. Altmetric Badge
    Chapter 12 Tyrosinemia Type I in Japan: A Report of Five Cases
  14. Altmetric Badge
    Chapter 13 Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update
  15. Altmetric Badge
    Chapter 14 Hepatorenal Tyrosinemia in Mexico: A Call to Action
  16. Altmetric Badge
    Chapter 15 Hereditary Tyrosinemia Type 1 in Turkey
  17. Altmetric Badge
    Chapter 16 From Weed Killer to Wonder Drug
  18. Altmetric Badge
    Chapter 17 The Québec NTBC Study
  19. Altmetric Badge
    Chapter 18 Dietary Considerations in Tyrosinemia Type I
  20. Altmetric Badge
    Chapter 19 Remaining Challenges in the Treatment of Tyrosinemia from the Clinician’s Viewpoint
  21. Altmetric Badge
    Chapter 20 Fah Knockout Animals as Models for Therapeutic Liver Repopulation
  22. Altmetric Badge
    Chapter 21 Gene Therapy in Tyrosinemia: Potential and Pitfalls
Attention for Chapter 17: The Québec NTBC Study
Altmetric Badge

Readers on

mendeley
9 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Chapter title
The Québec NTBC Study
Chapter number 17
Book title
Hereditary Tyrosinemia
Published in
Advances in experimental medicine and biology, January 2017
DOI 10.1007/978-3-319-55780-9_17
Pubmed ID
Book ISBNs
978-3-31-955779-3, 978-3-31-955780-9
Authors

The Québec NTBC Study Group, Fernando Alvarez, Suzanne Atkinson, Manon Bouchard, Catherine Brunel-Guitton, Daniela Buhas, Jean-François Bussières, Josée Dubois, Daphna Fenyves, Paul Goodyer, Martyne Gosselin, Ugur Halac, Patrick Labbé, Rachel Laframboise, Bruno Maranda, Serge Melançon, Aicha Merouani, Grant A. Mitchell, John Mitchell, Guy Parizeault, Luc Pelletier, Véronique Phan, Jean-François Turcotte

Abstract

In this chapter we describe the current Quebec NTBC Study protocol. Quebec's unique characteristics have influenced the development of the protocol, including a high prevalence of hepatorenal tyrosinemia (HT1), universal newborn screening for HT1, availability of treatment with nitisinone (NTBC) and special diet, a large territory, where HT1 treatment is coordinated by a small number of centers. Screened newborns are seen within 3 weeks of birth. Patients with liver dysfunction (prolonged prothrombin time and/or international normalized ratio (INR) provide sensitive, rapidly available indicators) are treated by NTBC and special diet. The specific diagnosis is confirmed by diagnostic testing for succinylacetone (SA) in plasma and urine samples obtained before treatment. After an initial period of frequent surveillance, stable patients are followed every 3 months by assay of plasma amino acids and NTBC and plasma and urine SA. Abdominal ultrasound is done every 6 months. Patients have an annual visit to the coordinating center that includes multidisciplinary evaluations in metabolic genetics, hepatology, imaging (for abdominal ultrasound and magnetic resonance imaging) and other specialties as necessary. If hepatocellular carcinoma is suspected by imaging and/or because of progressive elevation of alphafetoprotein, liver transplantation is discussed. To date, no patient in whom treatment was started before 1 month of age has developed hepatocellular carcinoma, after surveillance for up to 20 years in some. This patient group is the largest in the world that has been treated rapidly following newborn screening. The protocol continues to evolve to adapt to the challenges of long term surveillance.

Mendeley readers

The data shown below were compiled from readership statistics for 9 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 9 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 3 33%
Professor > Associate Professor 2 22%
Student > Bachelor 2 22%
Student > Master 1 11%
Unknown 1 11%
Readers by discipline Count As %
Medicine and Dentistry 4 44%
Agricultural and Biological Sciences 2 22%
Economics, Econometrics and Finance 1 11%
Unknown 2 22%