title: [Sepsis, as the presenting form of hereditary tyrosinemia type I].
abstract: A case of hereditary tyrosinemia type I with a septic onset is reported. Diagnosis was established by the urinary presence of succinylacetone (SA) and deficiency in fumarylacetoacetate hydrolase (FAAH) in a culture of fibroblasts. Response to treatment with a diet in which the aminoacids phenylalanine, tyrosine and methionine were restricted is commented upon.
authors.affiliation: Servicio de Pediatría de la Clínica Infantil de la Ciudad Sanitaria Vall d'Hebrón, Barcelona.
authors.forename: J
authors.initials: J
authors.lastname: Iglesias Niubo
authors.forename: E
authors.initials: E
authors.lastname: Riudor Taravilla
authors.forename: A R
authors.initials: AR
authors.lastname: Goma Brufau
authors.forename: M A
authors.initials: MA
authors.lastname: Civit Colas
authors.forename: J M
authors.initials: JM
authors.lastname: Suñé Gracia
authors.forename: J M
authors.initials: JM
authors.lastname: Bertrán Sanges
authors.forename: A
authors.initials: A
authors.lastname: Gallart Catalá
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000150:complications* / Q000175:diagnosis; D004927:Escherichia coli Infections / Q000097:blood / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D014443:Tyrosine / Q000097:blood*
chemical_list: D014443:Tyrosine
vernacular_title: Sepsis, como forma de presentación de tirosinemia hereditaria tipo I.