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Hereditary Tyrosinemia

Pathogenesis, Screening and Management
Sofort lieferbar | Lieferzeit: Sofort lieferbar I
Robert M. Tanguay
959, Advances in Experimental Medicine and Biology
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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.

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


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