Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin

Abstract

Hereditary Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder resulting from a deficiency of fumarylacetoacetase caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene. We detected 11 novel and 6 previously described pathogenic mutations in a cohort of 43 patients originating from the Middle East with the acute form HT1. All of the mutations were homozygous and we did not find the presence of a "founder mutation".