2026-04-14T08:42:46Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1261722025-12-05T12:27:42Zcom_2072_1057col_2072_478916col_2072_478917

Severe Hyperammonemia In Late-onset Ornithine Transcarbamylase Deficiency Triggered By Steroid Administration Gascón-Bayarri, Jordi Campdelacreu i Fumadó, Jaume Estela, Jordi Reñé Ramírez, Ramon Malalties rares Malalties cerebrals Rare diseases Brain diseases 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. 2018-11-16T09:49:15Z 2018-11-16T09:49:15Z 2015 2018-07-24T12:35:22Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion https://hdl.handle.net/2445/126172 25949836 eng Reproducció del document publicat a: https://doi.org/10.1155/2015/453752 Case Reports in Neurological Medicine, 2015, vol. https://doi.org/10.1155/2015/453752 cc by (c) Gascón Bayarri et al., 2015 http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess 3 p. application/pdf Hindawi Ltd Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))