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Title: | Severe Hyperammonemia In Late-onset Ornithine Transcarbamylase Deficiency Triggered By Steroid Administration |
Author: | Gascón-Bayarri, Jordi Campdelacreu i Fumadó, Jaume Estela, Jordi Reñé Ramírez, Ramon |
Keywords: | Malalties rares Malalties cerebrals Rare diseases Brain diseases |
Issue Date: | 2015 |
Publisher: | Hindawi Ltd |
Abstract: | 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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1155/2015/453752 |
It is part of: | Case Reports in Neurological Medicine, 2015, vol. |
URI: | http://hdl.handle.net/2445/126172 |
Related resource: | https://doi.org/10.1155/2015/453752 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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