Hereditary Tyrosinemia: Pathogenesis, Screening and Management (Advances in Experimental Medicine and Biology) by Robert M. Tanguay
English | 29 Aug. 2017 | ISBN: 3319557793 | 247 Pages | PDF | 7.85 MB
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