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Hereditary Tyrosinemia

Pathogenesis, Screening and Management
 eBook
Sofort lieferbar | Lieferzeit: Sofort lieferbar I
ISBN-13:
9783319557809
Einband:
eBook
Seiten:
247
Autor:
Robert M. Tanguay
Serie:
959, Advances in Experimental Medicine and Biology
eBook Typ:
PDF
eBook Format:
eBook
Kopierschutz:
Digital Watermark [Social-DRM]
Sprache:
Englisch
Beschreibung:

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
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