RT Journal Article
T1 Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department
A1 Solares, Isabel
A1 Heredia Mena, Carlos
A1 Castelbón, Francisco Javier
A1 Jericó, Daniel
A1 Córdoba, Karol Marcela
A1 Fontanellas, Antonio
A1 Enríquez De Salamanca Lorente, Rafael
A1 Morales Conejo, Montserrat
AB 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.
PB MDPI
SN 2075-4418
YR 2021
FD 2021-11-19
LK https://hdl.handle.net/20.500.14352/5054
UL https://hdl.handle.net/20.500.14352/5054
LA eng
NO 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]
NO Unión Europea
NO Instituto de Salud Carlos III
NO Fundación Mutua Madrileña de Investigación Médica
DS Docta Complutense
RD 20 may 2026