Hereditary Tyrosinemia: Pathogenesis, Screening and Management (Advances in Experimental Medicine and Biology Book 959)

"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"--Publisher's description Front Matter ....Pages i-xv Front Matter ....Pages 1-1 Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean (Jean Larochelle)....Pages 3-8 Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1 (Geneviève Morrow, Robert M. Tanguay)....Pages 9-21 Front Matter ....Pages 23-23 Molecular Aspects of the FAH Mutations Involved in HT1 Disease (Geneviève Morrow, Francesca Angileri, Robert M. Tanguay)....Pages 25-48 Molecular Pathogenesis of Liver Injury in Hereditary Tyrosinemia 1 (Robert M. Tanguay, Francesca Angileri, Arndt Vogel)....Pages 49-64 Front Matter ....Pages 65-65 Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine (Fernando Alvarez, Grant A. Mitchell)....Pages 67-73 The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec (Ugur Halac, Josée Dubois, Grant A. Mitchell)....Pages 75-83 Liver Transplantation for Hereditary Tyrosinaemia Type 1 in the United Kingdom (Patrick McKiernan)....Pages 85-91 NTBC and Correction of Renal Dysfunction (Arianna Maiorana, Carlo Dionisi-Vici)....Pages 93-100 Liver Cancer in Tyrosinemia Type 1 (Willem G. van Ginkel, Jan P. Pennings, Francjan J. van Spronsen)....Pages 101-109 Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients (Willem G. van Ginkel, Rianne Jahja, Stephan C. J. Huijbregts, Francjan J. van Spronsen)....Pages 111-122 Front Matter ....Pages 123-123 Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening (Anibh M. Das, Sebene Mayorandan, Nils Janzen)....Pages 125-132 Tyrosinemia Type I in Japan: A Report of Five Cases (Kimitoshi Nakamura, Michinori Ito, Yosuke Shigematsu, Fumio Endo)....Pages 133-138 Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update (Yves Giguère, Marie-Thérèse Berthier)....Pages 139-146 Hepatorenal Tyrosinemia in Mexico: A Call to Action (Isabel Ibarra-González, Cecilia Ridaura-Sanz, Cynthia Fernández-Lainez, Sara Guillén-López, Leticia Belmont-Martínez, Marcela Vela-Amieva)....Pages 147-156 Hereditary Tyrosinemia Type 1 in Turkey (Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M. Serif Cansever)....Pages 157-172 Front Matter ....Pages 173-173 From Weed Killer to Wonder Drug (Edward A. Lock)....Pages 175-185 The Québec NTBC Study (The Québec NTBC Study Group, Fernando Alvarez, Suzanne Atkinson, Manon Bouchard, Catherine Brunel-Guitton, Daniela Buhas et al.)....Pages 187-195 Dietary Considerations in Tyrosinemia Type I (Francjan J. van Spronsen, Margreet van Rijn, Uta Meyer, Anibh M. Das)....Pages 197-204 Remaining Challenges in the Treatment of Tyrosinemia from the Clinician’s Viewpoint (Grant A. Mitchell, Hao Yang)....Pages 205-213 Fah Knockout Animals as Models for Therapeutic Liver Repopulation (Markus Grompe)....Pages 215-230 Gene Therapy in Tyrosinemia: Potential and Pitfalls (Sophie Carter, Yannick Doyon)....Pages 231-243 Back Matter ....Pages 245-247