PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 20003495-11 2009 The patient, currently aged 12 years, shows a normal physical and psychomotor development.This is the first report of mild tyrosinemia type I disease caused by an Ala35Thr mutation in the FAH gene, presenting atypically without increase of the diagnostically important toxic metabolites succinylacetone and succinylacetoacetate. succinylacetone 287-302 fumarylacetoacetate hydrolase Homo sapiens 188-191