Arginase Deficiency Presenting as Acute Encephalopathy

Urea cycle disorders are rare metabolic disorders that present as encephalopathy with hyperammonemia. Arginase deficiency causing hyperargininemia is one among the urea cycle disorders, which usually presents as spastic diplegia. Hyperammonemic encephalopathy is rare in arginase deficiency. We prese...

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Detalles Bibliográficos
Autores principales: Cornelius, Leema Pauline, Raju, Vivekasaravanan, Julin, Asir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798281/
https://www.ncbi.nlm.nih.gov/pubmed/31649772
http://dx.doi.org/10.4103/jpn.JPN_36_19
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author Cornelius, Leema Pauline
Raju, Vivekasaravanan
Julin, Asir
author_facet Cornelius, Leema Pauline
Raju, Vivekasaravanan
Julin, Asir
author_sort Cornelius, Leema Pauline
collection PubMed
description Urea cycle disorders are rare metabolic disorders that present as encephalopathy with hyperammonemia. Arginase deficiency causing hyperargininemia is one among the urea cycle disorders, which usually presents as spastic diplegia. Hyperammonemic encephalopathy is rare in arginase deficiency. We present a rare case of arginase deficiency presenting as acute encephalopathy in a child.
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spelling pubmed-67982812019-10-24 Arginase Deficiency Presenting as Acute Encephalopathy Cornelius, Leema Pauline Raju, Vivekasaravanan Julin, Asir J Pediatr Neurosci Case Report Urea cycle disorders are rare metabolic disorders that present as encephalopathy with hyperammonemia. Arginase deficiency causing hyperargininemia is one among the urea cycle disorders, which usually presents as spastic diplegia. Hyperammonemic encephalopathy is rare in arginase deficiency. We present a rare case of arginase deficiency presenting as acute encephalopathy in a child. Wolters Kluwer - Medknow 2019 2019-09-27 /pmc/articles/PMC6798281/ /pubmed/31649772 http://dx.doi.org/10.4103/jpn.JPN_36_19 Text en Copyright: © 2019 Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Cornelius, Leema Pauline
Raju, Vivekasaravanan
Julin, Asir
Arginase Deficiency Presenting as Acute Encephalopathy
title Arginase Deficiency Presenting as Acute Encephalopathy
title_full Arginase Deficiency Presenting as Acute Encephalopathy
title_fullStr Arginase Deficiency Presenting as Acute Encephalopathy
title_full_unstemmed Arginase Deficiency Presenting as Acute Encephalopathy
title_short Arginase Deficiency Presenting as Acute Encephalopathy
title_sort arginase deficiency presenting as acute encephalopathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798281/
https://www.ncbi.nlm.nih.gov/pubmed/31649772
http://dx.doi.org/10.4103/jpn.JPN_36_19
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AT rajuvivekasaravanan arginasedeficiencypresentingasacuteencephalopathy
AT julinasir arginasedeficiencypresentingasacuteencephalopathy

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