{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:34:47Z","timestamp":1791214487409,"version":"4.1.0"},"reference-count":21,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2009,8,14]],"date-time":"2009-08-14T00:00:00Z","timestamp":1250208000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2010,3]]},"abstract":"<jats:p>Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late-onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up in our hospital presenting late-onset urea cycle disorders who initially manifested neuropsychiatric\/neurodevelopmental symptoms (the most prevalent neuropsychiatric\/neurodevelopmental diagnoses were mental retardation, attention-deficit hyperactivity disorder [ADHD], language disorder, and delirium). Generally, these clinical pictures did not benefit from pharmacological treatment. Conversely, dietary treatment improved the symptoms. Regarding biochemical data, 2 patients showed normal ammonium but high glutamine levels. This study highlights the fact that neuropsychiatric\/neurodevelopmental findings are common among the initial symptomatology of late-onset urea cycle disorders. The authors recommend that unexplained or nonresponsive neuropsychiatric\/neurodevelopmental symptoms appearing during childhood or adolescence be followed by a study of ammonia and amino acid plasmatic levels to rule out a urea cycle disorder.<\/jats:p>","DOI":"10.1177\/0883073809340696","type":"journal-article","created":{"date-parts":[[2009,8,14]],"date-time":"2009-08-14T20:49:27Z","timestamp":1250282967000},"page":"352-358","source":"Crossref","is-referenced-by-count":34,"title":["Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients"],"prefix":"10.1177","volume":"25","author":[{"given":"Mercedes","family":"Serrano","sequence":"first","affiliation":[{"name":"Neurometabolic Unit, Hospital Sant Joan de D\u00e9u, Barcelona, Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos , Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Martins","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, Hospital Sant Joan de D\u00e9u, Barcelona, Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos , Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bel\u00e9n","family":"P\u00e9rez-Due\u00f1as","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, Hospital Sant Joan de D\u00e9u, Barcelona, Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos , Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilian","family":"G\u00f3mez-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, Hospital Sant Joan de D\u00e9u, Barcelona, Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos , Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Empar","family":"Murgui","sequence":"additional","affiliation":[{"name":"Psychiatric Department, Hospital Sant Joan de D\u00e9u, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Fons","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, Hospital Sant Joan de D\u00e9u, Barcelona, Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos , Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angels","family":"Garc\u00eda-Cazorla","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, Hospital Sant Joan de D\u00e9u, Barcelona, Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos , Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Artuch","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, Hospital Sant Joan de D\u00e9u, Barcelona, Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos , Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Jara","sequence":"additional","affiliation":[{"name":"Intensive Care Unit, Hospital Mutua Terrassa, Terrassa, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 A.","family":"Arranz","sequence":"additional","affiliation":[{"name":"Laboratorio de Metabolopat\u00edas, Hospital Maternoinfantil Vall d\u2019Hebron, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"H\u00e4berle","sequence":"additional","affiliation":[{"name":"Laboratorio de Metabolopat\u00edas, Hospital Maternoinfantil Vall d'Hebron, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paz","family":"Briones","sequence":"additional","affiliation":[{"name":"Instituto de Bioqu\u00edmica Cl\u00ednica, Barcelona, Spain, Universit\u00e4tsklinikum M\u00fcnster, Klinik und Poliklinik f\u00fcr Kinderheilkunde, M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaume","family":"Campistol","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, Hospital Sant Joan de D\u00e9u, Barcelona, Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos , Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Pineda","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, Hospital Sant Joan de D\u00e9u, Barcelona, Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos , Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria A.","family":"Vilaseca","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, Hospital Sant Joan de D\u00e9u, Barcelona, Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos , Barcelona, Spain,"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2009,8,14]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0709-5"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10794"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961218)66:3<311::AID-AJMG14>3.0.CO;2-P"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-1126-2"},{"issue":"2","key":"atypb5","first-page":"133","volume":"30","author":"G\u00f6rker I.","year":"2005","journal-title":"J Psychiatry Neurosci"},{"issue":"10","key":"atypb6","first-page":"383","volume":"101","author":"Pineda M.","year":"1993","journal-title":"Med Clin"},{"key":"atypb7","unstructured":"Nuzum CT, Snodgrass PJ Multiple assays of the five urea-cycle enzymes in human liver homogenates . In: Grisol\u00eda Baguena R, Mayor F, eds. The Urea Cycle. New York, NY: John Wiley & Sons Inc; 1976:325-349."},{"issue":"2","key":"atypb8","first-page":"217","volume":"30","author":"Arranz JA","year":"2007","journal-title":"Value of the OTC structure in predicting a mutation pathogenic potential. J Inherit Metab Dis"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0686-6"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0793-4"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9118"},{"key":"atypb12","volume-title":"The Diagnostic and Statistical Manual of Mental Disorders","author":"American Psychiatric Association.","year":"1994","edition":"4"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005685010766"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0661-4"},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1136\/adc.86.1.54"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.1039"},{"key":"atypb17","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0834-9"},{"key":"atypb18","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380040109"},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10035"},{"key":"atypb20","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10230"},{"key":"atypb21","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3221"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073809340696","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073809340696","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:35:03Z","timestamp":1777494903000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073809340696"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8,14]]},"references-count":21,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,3]]}},"alternative-id":["10.1177\/0883073809340696"],"URL":"https:\/\/doi.org\/10.1177\/0883073809340696","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,8,14]]}}}