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Solares, Isabel Heredia Mena, Carlos Castelbón, Francisco Javier Jericó, Daniel Córdoba, Karol Marcela Fontanellas, Antonio Enríquez De Salamanca Lorente, Rafael Morales Conejo, Montserrat 2023-06-16T14:26:50Z 2023-06-16T14:26:50Z 2021-11-19 Solares I, Heredia-Mena C, Castelbón FJ, Jericó D, Córdoba KM, Fontanellas A, Enríquez De Salamanca R, Morales-Conejo M. Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department. Diagnostics 2021; 11: 2148. [DOI: 10.3390/diagnostics11112148] 2075-4418 10.3390/diagnostics11112148 https://hdl.handle.net/20.500.14352/5054 https://doi.org/10.3390/diagnostics11112148 https://www.mdpi.com/2075-4418/11/11/2148 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. eng https://creativecommons.org/licenses/by/3.0/es/ open access Atribución 3.0 España Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department journal article