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dc.contributor.authorGascón-Bayarri, Jordi-
dc.contributor.authorCampdelacreu i Fumadó, Jaume-
dc.contributor.authorEstela, Jordi-
dc.contributor.authorReñé Ramírez, Ramon-
dc.description.abstractOrnithine 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.-
dc.format.extent3 p.-
dc.publisherHindawi Ltd-
dc.relation.isformatofReproducció del document publicat a:
dc.relation.ispartofCase Reports in Neurological Medicine, 2015, vol.-
dc.rightscc by (c) Gascón Bayarri et al., 2015-
dc.subject.classificationMalalties rares-
dc.subject.classificationMalalties cerebrals-
dc.subject.otherRare diseases-
dc.subject.otherBrain diseases-
dc.titleSevere Hyperammonemia In Late-onset Ornithine Transcarbamylase Deficiency Triggered By Steroid Administration-
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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