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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8621113/ https://www.ncbi.nlm.nih.gov/pubmed/34829496 http://dx.doi.org/10.3390/diagnostics11112148 |
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author | Solares, Isabel Heredia-Mena, Carlos Castelbón, Francisco Javier Jericó, Daniel Córdoba, Karol Marcela Fontanellas, Antonio Enríquez de Salamanca, Rafael Morales-Conejo, Montserrat |
author_facet | Solares, Isabel Heredia-Mena, Carlos Castelbón, Francisco Javier Jericó, Daniel Córdoba, Karol Marcela Fontanellas, Antonio Enríquez de Salamanca, Rafael Morales-Conejo, Montserrat |
author_sort | Solares, Isabel |
collection | PubMed |
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 | Online Article Text |
id | pubmed-8621113 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-86211132021-11-27 Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department Solares, Isabel Heredia-Mena, Carlos Castelbón, Francisco Javier Jericó, Daniel Córdoba, Karol Marcela Fontanellas, Antonio Enríquez de Salamanca, Rafael Morales-Conejo, Montserrat Diagnostics (Basel) Review 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. MDPI 2021-11-19 /pmc/articles/PMC8621113/ /pubmed/34829496 http://dx.doi.org/10.3390/diagnostics11112148 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Solares, Isabel Heredia-Mena, Carlos Castelbón, Francisco Javier Jericó, Daniel Córdoba, Karol Marcela Fontanellas, Antonio Enríquez de Salamanca, Rafael Morales-Conejo, Montserrat Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department |
title | 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_short | 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 |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8621113/ https://www.ncbi.nlm.nih.gov/pubmed/34829496 http://dx.doi.org/10.3390/diagnostics11112148 |
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