Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration

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 wh...

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Bibliografiske detaljer
Udgivet i:Case Rep Neurol Med
Main Authors: Gascon-Bayarri, Jordi, Campdelacreu, Jaume, Estela, Jordi, Reñé, Ramon
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi Publishing Corporation 2015
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4407407/
https://ncbi.nlm.nih.gov/pubmed/25949836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/453752
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