title: Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.
abstract: Thirteen Israeli patients with type I tyrosinemia were studied. To the best of our knowledge, this group represents all of the patients that were diagnosed in Israel during the years 1987-1997. Their age of onset was variable but all the patients suffered from liver disease at presentation. Six died at 3 to 36 months of age, whereas the remaining 7, in whom NTBC was started at 5 to 30 months, are alive and well at 4 to 11 years. Three mutations were identified: a mis-splicing IVS8-1G>C mutation in a large Moslem kindred, Pro261Leu mutation in all Jewish patients, and the IVS12+5G>A mutation, commonly found in French Canadian patients.
authors.affiliation: The Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem, Israel. elpeleg@szmc.org.il
authors.forename: Orly N
authors.initials: ON
authors.lastname: Elpeleg
authors.forename: Avraham
authors.initials: A
authors.lastname: Shaag
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Holme
authors.forename: Ghaleb
authors.initials: G
authors.lastname: Zughayar
authors.forename: Suzi
authors.initials: S
authors.lastname: Ronen
authors.forename: Drora
authors.initials: D
authors.lastname: Fisher
authors.forename: Haggit
authors.initials: H
authors.lastname: Hurvitz
mesh_terms: D017668:Age of Onset; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D005838:Genotype; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D007223:Infant; D007557:Israel / Q000453:epidemiology; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D020176:Tyrosinemias / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics* / Q000401:mortality
chemical_list: D006867:Hydrolases; C020156:fumarylacetoacetase