Tanguay Hereditary Tyrosinemia

Pathogenesis, Screening and Management
1. Auflage 2017
ISBN: 978-3-319-55780-9
Verlag: Springer International Publishing
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, Band 959, 247 Seiten, eBook

Reihe: Advances in Experimental Medicine and Biology

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.

Zielgruppe

Research

Autoren/Hrsg.

Tanguay, Robert M.

Inhaltsverzeichnis

Foreword: Professor Robert M TanguaySection I: Tyrosinemia Type 1: HeredityChapter 1 HTI: Biochemical features and pathwaysProfessor Genevieve Morrow, Professor Robert M Tanguay Chapter 2 HT1 in Quebec: Occurrence and treatmentDr Grant A. Mitchel Chapter 3 The Evolution and Domain structure of fumarylacetoacetate hydrolase (FAH)Dr Halim MaaroufiProfessor Genevieve MorrowProfessor Robert M Tanguay Section II: The Molecular Basis of HTIChapter 4 Mutations in HTIProfessor Genevieve Morrow, Dr Francesca Angileri,  Chapter 5 Molecular Pathogenesis of FAA-induced Liver InjuryDr Arndt Vogel, Professor Robert M Tanguay Section III: PathologyChapter 6  Liver Imagingtbd. Chapter 7 Liver TransplantationDr Patrick McKiernan Chapter 8 HCC in HTI PatientsProfessor Francjan J. van Spronsen Chapter 9 NTBC and the correction of Renal DysfunctionDr Carlo Dionisi-Vici Chapter 10 Neurocognitive, Psychosocial and Neurological Issues in Tyrosinemia Type IProfessor Francjan J. van Spronsen,Professor Stephan Huijbregts,Dr Rianne Jahja Chapter 12 Mental Development in HTIProfessor Philippe Robaey  Section IV: Screening, Management and The FutureChapter 13 Newborn Screening for HT1Professor Yves Giguere Chapter 14  Management of HT1Dr Helene Ogier de Baulny Chapter 15  Inhibitors of PHPPD in the Treatment of HT1Dr Edward LockChapter 16Nitisinone: Pharmacology and DistributionDr Suzanne Atkinson