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Hereditary Tyrosinemia

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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 ... Weiterlesen
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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.



Inhalt

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

Produktinformationen

Titel: Hereditary Tyrosinemia
Untertitel: Pathogenesis, Screening and Management
Editor:
EAN: 9783319557809
ISBN: 978-3-319-55780-9
Format: E-Book (pdf)
Hersteller: Springer International Publishing
Herausgeber: Springer
Genre: Biologie
Veröffentlichung: 27.07.2017
Digitaler Kopierschutz: Wasserzeichen
Dateigrösse: 8.15 MB
Anzahl Seiten: 247
Jahr: 2017

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