Detalle Publicación

Diagnosis and management of inborn errors of metabolism in adult patients in the emergency department

Autores: Solares, I.; Heredia-Mena, C.; Castelbón, F. J.; Jericó Asenjo, Daniel; Córdoba Quiñones, Karol Marcela; Fontanellas Roma, Antonio; Enríquez de Salamanca, R.; Morales-Conejo, M. (Autor de correspondencia)
Título de la revista: DIAGNOSTICS
ISSN: 2075-4418
Volumen: 11
Número: 11
Páginas: 2148
Fecha de publicación: 2021
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.