title: [Primary trimethylaminuria: the fish odor syndrome].
abstract: Primary trimethylaminuria, or fish odor syndrome, is a congenital metabolic disorder characterized by a failure in the hepatic trimethylamine (TMA) oxidation route to trimethylamine N-oxide (TMANO). TMA is mostly derived from dietary precursors such as choline, carnitine and TMANO. The presence of abnormal amounts of TMA in the urine, sweat, exhaled air and other body secretions confers a very unpleasant body odor resembling that of decaying fish. As a consequence, patients can suffer from serious psychosocial sequelae. We present a case of primary trimethylaminuria with the aim of raising awareness about this condition.
authors.affiliation: Servicio de Endocrinología y Nutrición, Hospital Infanta Elena, Madrid, España. tmonalv@alumni.unav.es
authors.forename: Teresa
authors.initials: T
authors.lastname: Montoya Alvarez
authors.forename: Patricia Díaz
authors.initials: PD
authors.lastname: Guardiola
authors.forename: Juana Olivar
authors.initials: JO
authors.lastname: Roldán
authors.forename: Rosa
authors.initials: R
authors.lastname: Elviro
authors.forename: Ron
authors.initials: R
authors.lastname: Wevers
authors.forename: Guadalupe
authors.initials: G
authors.lastname: Guijarro
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000628:therapy / Q000652:urine*; D008744:Methylamines / Q000652:urine*; D009812:Odorants
chemical_list: D008744:Methylamines; C023336:trimethylamine