Hereditary Tyrosinemia: Pathogenesis, Screening and Management

ISBN-13: 9783319557793 / Angielski / Twarda / 2017 / 247 str.

Robert M. Tanguay

Opis

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.

Spis treści

Foreword: Professor Robert M Tanguay

Section I: Tyrosinemia Type 1: Heredity

Chapter 1   

HTI: Biochemical features and pathways
Professor Genevieve Morrow, 
Professor Robert M Tanguay

 

Chapter 2    

HT1 in Quebec: Occurrence and treatment
Dr Grant A. Mitchel

 

Chapter 3    

The Evolution and Domain structure of fumarylacetoacetate hydrolase (FAH)
Dr Halim Maaroufi
Professor Genevieve Morrow
Professor Robert M Tanguay

                            

Section II: The Molecular Basis of HTI

Chapter 4    

Mutations in HTI
Professor Genevieve Morrow, 
Dr Francesca Angileri, 

 

Chapter 5    

Molecular Pathogenesis of FAA-induced Liver Injury
Dr Arndt Vogel, 
Professor Robert M Tanguay

 

Section III: Pathology

Chapter 6   

Liver Imaging
tbd.

 

Chapter 7    

Liver Transplantation
Dr Patrick McKiernan

 

Chapter 8    

HCC in HTI Patients
Professor Francjan J. van Spronsen

 

Chapter 9    

NTBC and the correction of Renal Dysfunction
Dr Carlo Dionisi-Vici

 

Chapter 10  

Neurocognitive, Psychosocial and Neurological Issues in Tyrosinemia Type I
Professor Francjan J. van Spronsen,
Professor Stephan Huijbregts,
Dr Rianne Jahja

 

Chapter 12  

Mental Development in HTI
Professor Philippe Robaey

 

 

Section IV: Screening, Management and The Future

Chapter 13  

Newborn Screening for HT1
Professor Yves Giguere

 

Chapter 14  
Management of HT1
Dr Helene Ogier de Baulny

 

Chapter 15  
Inhibitors of PHPPD in the Treatment of HT1
Dr Edward Lock

Chapter 16
Nitisinone: Pharmacology and Distribution
Dr Suzanne Atkinson