Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department

Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults. Given the increasing frequency of this group of conditio...

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Autores principales:	Isabel Solares, Carlos Heredia-Mena, Francisco Javier Castelbón, Daniel Jericó, Karol Marcela Córdoba, Antonio Fontanellas, Rafael Enríquez de Salamanca, Montserrat Morales-Conejo
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	inborn errors of metabolism acute porphyrias mitochondrial disease urea cycle disorders Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/385d25f289b04ec9b712b3913c9333c9
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spelling	oai:doaj.org-article:385d25f289b04ec9b712b3913c9333c92021-11-25T17:22:03ZDiagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department10.3390/diagnostics111121482075-4418https://doaj.org/article/385d25f289b04ec9b712b3913c9333c92021-11-01T00:00:00Zhttps://www.mdpi.com/2075-4418/11/11/2148https://doaj.org/toc/2075-4418Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults. Given the increasing frequency of this group of conditions in adulthood, other clinicians in addition to pediatricians should be aware of them and learn to identify their characteristic manifestations. Early recognition and implementation of an appropriate therapeutic approach would improve the clinical outcome of many of these patients. This review presents when and how to investigate a metabolic disorder with the aim of encouraging physicians not to overlook a treatable disorder.Isabel SolaresCarlos Heredia-MenaFrancisco Javier CastelbónDaniel JericóKarol Marcela CórdobaAntonio FontanellasRafael Enríquez de SalamancaMontserrat Morales-ConejoMDPI AGarticleinborn errors of metabolismacute porphyriasmitochondrial diseaseurea cycle disordersMedicine (General)R5-920ENDiagnostics, Vol 11, Iss 2148, p 2148 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	inborn errors of metabolism acute porphyrias mitochondrial disease urea cycle disorders Medicine (General) R5-920
spellingShingle	inborn errors of metabolism acute porphyrias mitochondrial disease urea cycle disorders Medicine (General) R5-920 Isabel Solares Carlos Heredia-Mena Francisco Javier Castelbón Daniel Jericó Karol Marcela Córdoba Antonio Fontanellas Rafael Enríquez de Salamanca Montserrat Morales-Conejo Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department
description	Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults. Given the increasing frequency of this group of conditions in adulthood, other clinicians in addition to pediatricians should be aware of them and learn to identify their characteristic manifestations. Early recognition and implementation of an appropriate therapeutic approach would improve the clinical outcome of many of these patients. This review presents when and how to investigate a metabolic disorder with the aim of encouraging physicians not to overlook a treatable disorder.
format	article
author	Isabel Solares Carlos Heredia-Mena Francisco Javier Castelbón Daniel Jericó Karol Marcela Córdoba Antonio Fontanellas Rafael Enríquez de Salamanca Montserrat Morales-Conejo
author_facet	Isabel Solares Carlos Heredia-Mena Francisco Javier Castelbón Daniel Jericó Karol Marcela Córdoba Antonio Fontanellas Rafael Enríquez de Salamanca Montserrat Morales-Conejo
author_sort	Isabel Solares
title	Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department
title_short	Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department
title_full	Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department
title_fullStr	Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department
title_full_unstemmed	Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department
title_sort	diagnosis and management of inborn errors of metabolism in adult patients in the emergency department
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/385d25f289b04ec9b712b3913c9333c9
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Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department

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