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Hereditary Tyrosinemia

Name: Hereditary Tyrosinemia
Brand: Springer International Publishing AG
SKU: 9783319857459
Price: 735.6 PLN
Availability: InStock

Pathogenesis, Screening and Management

Autor: Robert M. Tanguay

Język:

Oprawa: Miękka

Wydawca: Springer International Publishing AG

Dostępność: Dostępna u dostawcy

Wysyłamy za 5-8 dni

735.60 zł

Hereditary tyrosinemia type 1 (HT1), the most severe inborn error of the tyrosine degradation pathwa...

Informacje o książce

Autor

Robert M. Tanguay

Język

Angielski

Oprawa

Książka - Miękka

Data wydania

2018

strony

247

EAN

9783319857459

Enbook ID

21374616

Wydawca

Springer International Publishing AG

Waga

507

Wymiary

178 x 254 x 15

Pełny opis

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.