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- F Maillot, H Blasco, B Lioger, A Bigot, and C Douillard.
- 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.
- Rev Med Interne. 2016 Oct 1; 37 (10): 680-684.
AbstractUrea 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.Copyright © 2016 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.
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