Management of late onset urea cycle disorders—a remaining challenge for the intensivist?
BACKGROUND: Hyperammonemia caused by a disorder of the urea cycle is a rare cause of metabolic encephalopathy that may be underdiagnosed by the adult intensivists because of its rarity. Urea cycle disorders are autosomal recessive diseases except for ornithine transcarbamylase deficiency (OTCD) that...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788146/ https://www.ncbi.nlm.nih.gov/pubmed/33409766 http://dx.doi.org/10.1186/s13613-020-00797-y |
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author | Redant, S. Empain, A. Mugisha, A. Kamgang, P. Attou, R. Honoré, P. M. De Bels, D. |
author_facet | Redant, S. Empain, A. Mugisha, A. Kamgang, P. Attou, R. Honoré, P. M. De Bels, D. |
author_sort | Redant, S. |
collection | PubMed |
description | BACKGROUND: Hyperammonemia caused by a disorder of the urea cycle is a rare cause of metabolic encephalopathy that may be underdiagnosed by the adult intensivists because of its rarity. Urea cycle disorders are autosomal recessive diseases except for ornithine transcarbamylase deficiency (OTCD) that is X-linked. Optimal treatment is crucial to improve prognosis. Main body We systematically reviewed cases reported in the literature on hyperammonemia in adulthood. We used the US National Library of Medicine Pubmed search engine since 2009. The two main causes are ornithine transcarbamylase deficiency followed by type II citrullinemia. Diagnosis by the intensivist remains very challenging therefore delaying treatment and putting patients at risk of fatal cerebral edema. Treatment consists in adapted nutrition, scavenging agents and dialysis. As adults are more susceptible to hyperammonemia, emergent hemodialysis is mandatory before referral to a reference center if ammonia levels are above 200 µmol/l as the risk of cerebral edema is then above 55%. Definitive therapy in urea cycle abnormalities is liver transplantation. CONCLUSION: Awareness of urea cycle disorders in adults intensive care units can optimize early management and accordingly dramatically improve prognosis. By preventing hyperammonemia to induce brain edema and herniation leading to death. |
format | Online Article Text |
id | pubmed-7788146 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Springer International Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-77881462021-01-14 Management of late onset urea cycle disorders—a remaining challenge for the intensivist? Redant, S. Empain, A. Mugisha, A. Kamgang, P. Attou, R. Honoré, P. M. De Bels, D. Ann Intensive Care Review BACKGROUND: Hyperammonemia caused by a disorder of the urea cycle is a rare cause of metabolic encephalopathy that may be underdiagnosed by the adult intensivists because of its rarity. Urea cycle disorders are autosomal recessive diseases except for ornithine transcarbamylase deficiency (OTCD) that is X-linked. Optimal treatment is crucial to improve prognosis. Main body We systematically reviewed cases reported in the literature on hyperammonemia in adulthood. We used the US National Library of Medicine Pubmed search engine since 2009. The two main causes are ornithine transcarbamylase deficiency followed by type II citrullinemia. Diagnosis by the intensivist remains very challenging therefore delaying treatment and putting patients at risk of fatal cerebral edema. Treatment consists in adapted nutrition, scavenging agents and dialysis. As adults are more susceptible to hyperammonemia, emergent hemodialysis is mandatory before referral to a reference center if ammonia levels are above 200 µmol/l as the risk of cerebral edema is then above 55%. Definitive therapy in urea cycle abnormalities is liver transplantation. CONCLUSION: Awareness of urea cycle disorders in adults intensive care units can optimize early management and accordingly dramatically improve prognosis. By preventing hyperammonemia to induce brain edema and herniation leading to death. Springer International Publishing 2021-01-06 /pmc/articles/PMC7788146/ /pubmed/33409766 http://dx.doi.org/10.1186/s13613-020-00797-y Text en © The Author(s) 2021 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Review Redant, S. Empain, A. Mugisha, A. Kamgang, P. Attou, R. Honoré, P. M. De Bels, D. Management of late onset urea cycle disorders—a remaining challenge for the intensivist? |
title | Management of late onset urea cycle disorders—a remaining challenge for the intensivist? |
title_full | Management of late onset urea cycle disorders—a remaining challenge for the intensivist? |
title_fullStr | Management of late onset urea cycle disorders—a remaining challenge for the intensivist? |
title_full_unstemmed | Management of late onset urea cycle disorders—a remaining challenge for the intensivist? |
title_short | Management of late onset urea cycle disorders—a remaining challenge for the intensivist? |
title_sort | management of late onset urea cycle disorders—a remaining challenge for the intensivist? |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788146/ https://www.ncbi.nlm.nih.gov/pubmed/33409766 http://dx.doi.org/10.1186/s13613-020-00797-y |
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