Hereditary Tyrosinemia Pathogenesis, Screening and Management /

• Corporate Author: SpringerLink (Online service)
• Other Authors: Tanguay, Robert M. (Editor)
• Format: Electronic eBook
• Language: English
• Published: Cham : Springer International Publishing : Imprint: Springer, 2017.
• Series: Advances in Experimental Medicine and Biology, 959
• Subjects: Life sciences.; Proteins.; Life Sciences.; Protein Science.

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 de...