Gascón-Bayarri, JordiCampdelacreu i Fumadó, JaumeEstela, JordiReñé Ramírez, Ramon2018-11-162018-11-162015https://hdl.handle.net/2445/126172Ornithine 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.3 p.application/pdfengcc by (c) Gascón Bayarri et al., 2015http://creativecommons.org/licenses/by/3.0/es/Malalties raresMalalties cerebralsRare diseasesBrain diseasesinfo:eu-repo/semantics/article2018-07-24info:eu-repo/semantics/openAccess25949836