Hereditary Tyrosinemia

Pathogenesis, Screening and Management

Buch | Softcover

XV, 247 Seiten

2018 | 1. Softcover reprint of the original 1st ed. 2017
Springer International Publishing (Verlag)
978-3-319-85745-9 (ISBN)

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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 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.

Section I: Tyrosinemia Type 1: Heredity.- Section II:The Molecular Basis of HTI.- Section III: Pathology.- Section IV: Screening, Management and The Future.

Erscheint lt. Verlag	12.8.2018
Reihe/Serie	Advances in Experimental Medicine and Biology
Zusatzinfo	XV, 247 p. 53 illus., 36 illus. in color.
Verlagsort	Cham
Sprache	englisch
Maße	178 x 254 mm
Gewicht	507 g
Themenwelt	Naturwissenschaften ► Biologie ► Biochemie
Themenwelt	Naturwissenschaften ► Biologie ► Mikrobiologie / Immunologie
Schlagworte	Liver Cancer • Metabolic disease • newborn screening • Transplantation • Tyrosinemia
ISBN-10	3-319-85745-2 / 3319857452
ISBN-13	978-3-319-85745-9 / 9783319857459
Zustand	Neuware