{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T06:55:30Z","timestamp":1763535330926},"reference-count":19,"publisher":"Wiley","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Neurological Medicine"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked disorder of urea synthesis leading to hyperammonemia. Several late-onset cases have been reported. Undiagnosed and untreated patients are at the risk of death or suffering from irreversible sequelae. We describe a 56-year-old patient who presented with acute encephalopathy after steroid treatment. Hyperammonemia due to OTCD was diagnosed and a mutation was found. This allowed us to diagnose two other family members with unexplained encephalopathy who are now asymptomatic on a low-protein diet. OTCD should be considered in any patient with hyperammonemic encephalopathy and immediate treatment should be given to avoid a fatal outcome. We emphasize the need to examine other family members if the diagnosis is confirmed, in order to prevent further life-threatening episodes of encephalopathy or neonatal coma of newborn.<\/jats:p>","DOI":"10.1155\/2015\/453752","type":"journal-article","created":{"date-parts":[[2015,4,9]],"date-time":"2015-04-09T21:02:08Z","timestamp":1428613328000},"page":"1-3","source":"Crossref","is-referenced-by-count":11,"title":["Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration"],"prefix":"10.1155","volume":"2015","author":[{"given":"Jordi","family":"Gascon-Bayarri","sequence":"first","affiliation":[{"name":"Unitat de Diagn\u00f2stic i Tractament de les Dem\u00e8ncies, Neurology Service, Hospital Universitari de Bellvitge, Feixa Llarga s\/n, 08907 L\u2019Hospitalet de Llobregat, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaume","family":"Campdelacreu","sequence":"additional","affiliation":[{"name":"Unitat de Diagn\u00f2stic i Tractament de les Dem\u00e8ncies, Neurology Service, Hospital Universitari de Bellvitge, Feixa Llarga s\/n, 08907 L\u2019Hospitalet de Llobregat, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordi","family":"Estela","sequence":"additional","affiliation":[{"name":"Neurology Service, Hospital Universitari Parc Taul\u00ed, Parc del Taul\u00ed 1, 08208 Sabadell, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramon","family":"Re\u00f1\u00e9","sequence":"additional","affiliation":[{"name":"Unitat de Diagn\u00f2stic i Tractament de les Dem\u00e8ncies, Neurology Service, Hospital Universitari de Bellvitge, Feixa Llarga s\/n, 08907 L\u2019Hospitalet de Llobregat, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1007\/s00134-008-1217-2"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-013-9624-0"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0105-9"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1159\/000201428"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/493216"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2011.23"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/903546"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2014-000916"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccc.2005.05.002"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcg.0000225628.84168.25"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.57.7.1085"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2362.2002.00993.x"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2012.27.5.556"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-32"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20339"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1056\/nejm199006073222305"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.12.1777"},{"issue":"5","key":"18","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1111\/j.1399-0004.1996.tb02380.x","volume":"50","year":"1996","journal-title":"Clinical Genetics"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1007\/s12072-008-9078-x"}],"container-title":["Case Reports in Neurological Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crinm\/2015\/453752.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crinm\/2015\/453752.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crinm\/2015\/453752.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,8]],"date-time":"2024-06-08T09:05:44Z","timestamp":1717837544000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crinm\/2015\/453752\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":19,"alternative-id":["453752","453752"],"URL":"https:\/\/doi.org\/10.1155\/2015\/453752","relation":{},"ISSN":["2090-6668","2090-6676"],"issn-type":[{"value":"2090-6668","type":"print"},{"value":"2090-6676","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}