{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T21:23:53Z","timestamp":1773437033470,"version":"3.50.1"},"reference-count":42,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T00:00:00Z","timestamp":1504224000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T00:00:00Z","timestamp":1504224000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2017,4,2]],"date-time":"2017-04-02T00:00:00Z","timestamp":1491091200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1016\/j.ymgmr.2017.07.001","type":"journal-article","created":{"date-parts":[[2017,7,6]],"date-time":"2017-07-06T09:01:31Z","timestamp":1499331691000},"page":"103-109","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"special_numbering":"C","title":["Psychiatric adult-onset of urea cycle disorders: A case-series"],"prefix":"10.1016","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9488-9669","authenticated-orcid":false,"given":"Adrien","family":"Bigot","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Brunault","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Lavigne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7ois","family":"Feillet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0155-8597","authenticated-orcid":false,"given":"Elsa","family":"Kaphan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christel","family":"Thauvin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Leguy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Brou\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel C.","family":"Tchan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7ois","family":"Maillot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgmr.2017.07.001_bb0005","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1016\/j.revmed.2016.02.011","article-title":"Diagnosis and treatment of urea cycle disorders in adult patients","volume":"37","author":"Maillot","year":"2016","journal-title":"Rev. Med. Interne"},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0010","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.ymgme.2013.07.008","article-title":"The incidence of urea cycle disorders","volume":"110","author":"Summar","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0015","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1016\/j.clineuro.2012.12.027","article-title":"A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine","volume":"115","author":"Yazaki","year":"2013","journal-title":"Clin. Neurol. Neurosurg."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0020","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1023\/B:BOLI.0000028840.97261.c6","article-title":"Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies","volume":"27","author":"Rohininath","year":"2004","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0025","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/s10545-005-0303-7","article-title":"Urea cycle defects: management and outcome","volume":"28","author":"Nassogne","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0030","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1007\/s10545-013-9618-y","article-title":"The neuropsychiatry of inborn errors of metabolism","volume":"36","author":"Walterfang","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0035","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/s12991-014-0027-x","article-title":"Psychiatric manifestations of treatable hereditary metabolic disorders in adults","volume":"13","author":"Demily","year":"2014","journal-title":"Ann. General Psychiatry"},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0040","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/1750-1172-9-65","article-title":"Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review","volume":"9","author":"Bonnot","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0045","doi-asserted-by":"crossref","DOI":"10.3389\/fnins.2015.00177","article-title":"Secondary psychosis induced by metabolic disorders","volume":"9","author":"Bonnot","year":"2015","journal-title":"Front. Neurosci."},{"issue":"Suppl. 2","key":"10.1016\/j.ymgmr.2017.07.001_bb0050","doi-asserted-by":"crossref","first-page":"S559","DOI":"10.1007\/s00415-014-7396-6","article-title":"Psychiatric signs and symptoms in treatable inborn errors of metabolism","volume":"261","author":"Nia","year":"2014","journal-title":"J. Neurol."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0055","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1139\/jpn.0520","article-title":"Autistic-like findings associated with a urea cycle disorder in a 4-year-old girl","volume":"30","author":"G\u00f6rker","year":"2005","journal-title":"J. Psychiatry Neurosci."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0060","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1177\/0883073809340696","article-title":"Neuropsychiatric manifestations in late-onset urea cycle disorder patients","volume":"25","author":"Serrano","year":"2010","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0065","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/1750-1172-7-32","article-title":"Suggested guidelines for the diagnosis and management of urea cycle disorders","volume":"7","author":"Haberle","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0070","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajem.2013.05.010","article-title":"At the intersection of toxicology, psychiatry, and genetics: a diagnosis of ornithine transcarbamylase deficiency","volume":"31","author":"Sloas","year":"2013","journal-title":"Am. J. Emerg. Med."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0075","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1007\/s10545-015-9840-x","article-title":"The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype","volume":"38","author":"K\u00f6lker","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0080","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1097\/01.AOG.0000157769.90230.24","article-title":"Postpartum \u201cpsychosis\u201d in mild argininosuccinate synthetase deficiency","volume":"105","author":"Enns","year":"2005","journal-title":"Obstet. Gynecol."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0085","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1016\/j.revmed.2010.02.008","article-title":"Ornithine transcarbamylase deficiency in adult","volume":"31","author":"Brajon","year":"2010","journal-title":"Rev. M\u00e9decine Interne Fond\u00e9e Par Soci\u00e9t\u00e9 Natl. Francaise M\u00e9decine Interne."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0090","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1176\/appi.ajp.2010.10071032","article-title":"Misdiagnosed postpartum psychosis revealing a late-onset urea cycle disorder","volume":"168","author":"Fassier","year":"2011","journal-title":"Am. J. Psychiatry"},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0095","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1097\/00003246-200201000-00035","article-title":"Late diagnosis of ornithine transcarbamylase defect in three related female patients: polymorphic presentations","volume":"30","author":"Legras","year":"2002","journal-title":"Crit. Care Med."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0100","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1136\/jnnp.2003.026542","article-title":"Adult onset ornithine transcarbamylase deficiency: an unusual cause of semantic disorders","volume":"75","author":"Rimbaux","year":"2004","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0105","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1001\/archneur.64.12.1777","article-title":"Fatal initial adult-onset presentation of urea cycle defect","volume":"64","author":"Lien","year":"2007","journal-title":"Arch. Neurol."},{"issue":"97","key":"10.1016\/j.ymgmr.2017.07.001_bb0110","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1111\/j.1651-2227.2008.00952.x","article-title":"Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes","volume":"1992","author":"Summar","year":"2008","journal-title":"Acta Paediatr. Oslo Nor."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0115","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1056\/NEJM198602273140903","article-title":"Natural history of symptomatic partial ornithine transcarbamylase deficiency","volume":"314","author":"Rowe","year":"1986","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0120","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1159\/000468724","article-title":"Ornithine transcarbamylase deficiency in male adolescence and adulthood","volume":"43","author":"Yoshino","year":"1990","journal-title":"Enzyme"},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0125","first-page":"702","article-title":"Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-old","volume":"13","author":"Eather","year":"2006","journal-title":"J. Clin. Neurosci. Off. J. Neurosurg. Soc. Australas."},{"issue":"Suppl. 1","key":"10.1016\/j.ymgmr.2017.07.001_bb0130","first-page":"S157","article-title":"Headache and neuropsychic disorders in the puerperium: a case report with suspected deficiency of urea cycle enzymes","volume":"32","author":"Tonini","year":"2011","journal-title":"Neurol. Sci. Off. J. Ital. Neurol. Soc. Ital. Soc. Clin. Neurophysiol."},{"issue":"Suppl. 1","key":"10.1016\/j.ymgmr.2017.07.001_bb0135","doi-asserted-by":"crossref","first-page":"S58","DOI":"10.1016\/j.ymgme.2003.11.016","article-title":"Cognitive outcome in urea cycle disorders","volume":"81","author":"Gropman","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0140","doi-asserted-by":"crossref","first-page":"1652","DOI":"10.1056\/NEJM199006073222307","article-title":"Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma","volume":"322","author":"Arn","year":"1990","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0145","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/S0035-3787(07)92632-6","article-title":"Urea cycle disorders in adult patients","volume":"163","author":"Maillot","year":"2007","journal-title":"Rev. Neurol. (Paris)"},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0150","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/0016-5085(95)90295-3","article-title":"Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency","volume":"109","author":"Felig","year":"1995","journal-title":"Gastroenterology"},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0155","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1177\/0148607112447815","article-title":"A rare case of hyperammonemia complication of high-protein parenteral nutrition","volume":"37","author":"Pillai","year":"2013","journal-title":"JPEN J. Parenter. Enteral Nutr."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0160","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1001\/archneur.64.1.126","article-title":"Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery","volume":"64","author":"Hu","year":"2007","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0165","doi-asserted-by":"crossref","DOI":"10.1016\/j.genhosppsych.2012.03.019","article-title":"A patient with type II citrullinemia who developed refractory complex seizure","volume":"35","author":"Sakamoto","year":"2013","journal-title":"Gen. Hosp. Psychiatry"},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0170","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/j.clinbiochem.2014.05.068","article-title":"The evidence based practice for optimal sample quality for ammonia measurement","volume":"47","author":"Nikolac","year":"2014","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0175","first-page":"136","article-title":"Severe liver fibrosis in argininosuccinic aciduria","volume":"110","author":"Zimmermann","year":"1986","journal-title":"Arch. Pathol. Lab. Med."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0180","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1002\/hep.510260217","article-title":"Focal glycogenosis of the liver in disorders of ureagenesis: its occurrence and diagnostic significance","volume":"26","author":"Badizadegan","year":"1997","journal-title":"Hepatol. Baltim. Md."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0185","doi-asserted-by":"crossref","DOI":"10.1016\/j.jpeds.2013.12.024","article-title":"Significant hepatic involvement in patients with ornithine transcarbamylase deficiency","volume":"164","author":"Gallagher","year":"2014","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0190","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.ymgme.2011.10.016","article-title":"Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency","volume":"105","author":"Wilson","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0195","first-page":"145","article-title":"Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation","volume":"14","author":"von Wendt","year":"1982","journal-title":"Ann. Clin. Res."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0200","first-page":"1282","article-title":"Continuous venovenous haemofiltration in hyperammonaemic coma of an adult with non-diagnosed partial ornithine transcarbamylase deficiency","volume":"14","author":"Chang","year":"1999","journal-title":"Nephrol. Dial. Transplant. Off. Publ. Eur. Dial. Transpl. Assoc. - Eur. Ren. Assoc."},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0205","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1016\/S0140-6736(95)90843-9","article-title":"Psychiatric manifestations in girl with ornithine transcarbamylase deficiency","volume":"345","author":"Largilli\u00e8re","year":"1995","journal-title":"Lancet"},{"key":"10.1016\/j.ymgmr.2017.07.001_bb0210","doi-asserted-by":"crossref","first-page":"1944","DOI":"10.1016\/S0140-6736(00)05067-4","article-title":"Coma in a young anorexic woman","volume":"357","author":"Blans","year":"2001","journal-title":"Lancet"}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S221442691730037X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S221442691730037X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:49:09Z","timestamp":1762001349000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S221442691730037X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9]]},"references-count":42,"alternative-id":["S221442691730037X"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2017.07.001","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2017,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Psychiatric adult-onset of urea cycle disorders: A case-series","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2017.07.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}