Title:
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Severe Hyperammonemia In Late-onset Ornithine Transcarbamylase Deficiency Triggered By Steroid Administration
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Author:
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Gascón-Bayarri, Jordi; Campdelacreu i Fumadó, Jaume; Estela, Jordi; Reñé Ramírez, Ramon
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Abstract:
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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. |
Subject(s):
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-Malalties rares -Malalties cerebrals -Rare diseases -Brain diseases |
Rights:
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cc by (c) Gascón Bayarri et al., 2015
http://creativecommons.org/licenses/by/3.0/es/ |
Document type:
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Article Article - Published version |
Published by:
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Hindawi Ltd
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