title: [Diagnosis and treatment of urea cycle disorders in adult patients].
abstract: Urea cycle disorders (UCDs) are inborn errors of metabolism in which the clinical picture is mostly due to ammonia intoxication. UCD onset may be observed at any age. Acute decompensations of UCDs include neuro-psychiatric symptoms such as headache, confusion, convulsions, ataxia, agitation or delirium, as well as digestive symptoms, namely nausea and vomiting along with abdominal pain. Acute decompensations may lead to an irreversible coma in the absence of specific therapy. The first step is to measure promptly ammonemia in such patients, and start appropriate therapy on an emergency basis.
authors.affiliation: Service de médecine interne, centre de compétences des maladies héréditaires du métabolisme, hôpital Bretonneau, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France; Université François-Rabelais, Tours, France; Inserm U1069, Tours, France. Electronic address: francois.maillot@univ-tours.fr.
authors.forename: F
authors.initials: F
authors.lastname: Maillot
authors.affiliation: Université François-Rabelais, Tours, France; Service de biochimie, CHRU de Tours, Tours, France; Inserm U930, Tours, France.
authors.forename: H
authors.initials: H
authors.lastname: Blasco
authors.affiliation: Service de médecine interne, centre de compétences des maladies héréditaires du métabolisme, hôpital Bretonneau, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France; Université François-Rabelais, Tours, France.
authors.forename: B
authors.initials: B
authors.lastname: Lioger
authors.affiliation: Service de médecine interne, centre de compétences des maladies héréditaires du métabolisme, hôpital Bretonneau, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France; Université François-Rabelais, Tours, France.
authors.forename: A
authors.initials: A
authors.lastname: Bigot
authors.affiliation: Centre de référence des maladies héréditaires du métabolisme, CHRU de Lille, Lille, France.
authors.forename: C
authors.initials: C
authors.lastname: Douillard
mesh_terms: D000328:Adult; D003221:Confusion / Q000175:diagnosis / Q000209:etiology; D006261:Headache / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D009325:Nausea / Q000175:diagnosis / Q000209:etiology; D012640:Seizures / Q000175:diagnosis / Q000209:etiology; D056806:Urea Cycle Disorders, Inborn / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D014839:Vomiting / Q000175:diagnosis / Q000209:etiology
keywords: Ammonia intoxication; Déficits du cycle de l’urée; Intoxication par l’ammoniac; Urea cycle disorders