BookRobert M. Tanguay, editor.
Summary: "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.
Contents:
Hereditary tyrosinemia type I. Discovery of hereditary tyrosinemia in Saguenay- Lac St-Jean / Jean Larochelle
Biochemical and clinical aspects of hereditary tyrosinemia type 1 / Geneviève Morrow, Robert M. Tanguay
Molecular basis of HT1. Molecular aspects of the FAH mutations involved in HT1 disease / Geneviève Morrow, Francesca Angileri, Robert M. Tanguay
Molecular pathogenesis of liver injury in hereditary tyrosinemia 1 / Robert M. Tanguay, Francesca Angileri, Arndt Vogel
Pathology. Tyrosinemia and liver transplantation: experience at CHU Sainte-Justine / Fernando Alvarez, Grant A. Mitchell
The liver in tyrosinemia type I: clinical management and course in Quebec / Ugur Halac, Josée Dubois, Grant A. Mitchell
Liver transplantation for hereditary tyrosinaemia type 1 in the United Kingdom / Patrick McKiernan
NTBC and correction of renal dysfunction / Arianna Maiorana, Carlo Dionisi-Vici
Liver cancer in tyrosinemia type 1 / Willem G. van Ginkel, Jan P. Pennings, Francjan J. van Spronsen
Neurological and neuropsychological problems in tyrosinemia type I patients / Willem G. van Ginkel, Rianne Jahja, Stephan C.J. Huijbregts, Francjan J. van Spronsen
Screening. Diagnosing hepatorenal tyrosinaemia in Europe: newborn mass screening versus selective screening / Anibh M. Das, Sebene Mayorandan, Nils Janzen
Tyrosinemia type I in Japan: a report of five cases / Kimitoshi Nakamura, Michinori Ito, Yosuke Shigematsu, Fumio Endo
Newborn screening for hereditary tyrosinemia type I in Québec: update / Yves Giguère, Marie-Thérèse Berthier
Hepatorenal tyrosinemia in Mexico: a call to action / Isabel Ibarra-González, Cecilia Ridaura-Sanz, Cynthia Fernández-Lainez [and others]
Hereditary tyrosinemia type 1 in Turkey / Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M. Serif Cansever
Management and future. From weed killer to wonder drug / Edward A. Lock
The Québec NTBC study / Fernando Alvarez, Suzanne Atkinson, Manon Bouchard, Catherine Brunel-Guitton [and others]
Dietary considerations in tyrosinemia type I / Francjan J. van Spronsen, Margreet van Rijn, Uta Meyer, Anibh M. Das
Remaining challenges in the treatment of tyrosinemia from the clinician's viewpoint / Grant A. Mitchell, Hao Yang
Fah knockout animals as models for therapeutic liver repopulation / Markus Grompe
Gene therapy in tyrosinemia: potential and pitfalls / Sophie Carter, Yannick Doyon.