2026-06-29T07:33:18Zhttps://docta.ucm.es/rest/oai/request

oai:docta.ucm.es:20.500.14352/50542025-11-18T15:10:48Zcom_20.500.14352_14col_20.500.14352_15

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 Lorente, Rafael Morales Conejo, Montserrat 577.1 Inborn errors of metabolism Acute porphyrias Mitochondrial disease Urea cycle disorders Medicina Bioquímica (Medicina) 32 Ciencias Médicas 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. Unión Europea Instituto de Salud Carlos III Fundación Mutua Madrileña de Investigación Médica Depto. de Medicina Fac. de Medicina TRUE pub 2023-06-16T14:26:50Z 2023-06-16T14:26:50Z 2021-11-19 journal article https://hdl.handle.net/20.500.14352/5054 2075-4418 10.3390/diagnostics11112148 eng info:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016 (ISCIII)/PI18%2F00860/ES/ENSAYO PRECLINICO CON ARN MENSAJERO PARA EL TRATAMIENTO ETIOLOGICO DE LA PORFIRIA AGUDA INTERMITENTE. EFICACIA Y SEGURIDAD EN PRIMATES NO HUMANOS Y EN UN NUEVO MODELO DE PORFIRIA HEPATICA EN CONEJO ./ info:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020 (ISCIII)/PI21%2F00546/ES/EVALUACION DE MEDICAMENTOS INNOVADORES BASADOS EN ARN EN LA CORRECCION DE LAS VIAS METABÓLICAS DE HEMO, GLICOLIPIDOS Y HOMOCISTEINA EN PACIENTES CON PORFIRIA AGUDA INTERMITENTE Y MODELOS EXPERIMENTALES DE RATÓN Y PRIMATES-NO-HUMANOS./ 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] Atribución 3.0 España https://creativecommons.org/licenses/by/3.0/es/ open access application/pdf MDPI