RT Generic
T1 Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department
A1 Solares, Isabel
A1 Heredia-Mena, Carlos
A1 Castelbon, Francisco Javier
A1 Jerico, Daniel
A1 Cordoba, Karol Marcela
A1 Fontanellas, Antonio
A1 Enriquez de Salamanca, Rafael
A1 Morales-Conejo, Montserrat
K1 inborn errors of metabolism
K1 acute porphyrias
K1 mitochondrial disease
K1 urea cycle disorders
K1 Pregnancy
K1 Hyperammonemia
K1 Homocystinuria
K1 Pathogenesis
K1 Disorders
K1 Oxidation
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
YR 2021
FD 2021-11-01
LK https://hdl.handle.net/10668/25776
UL https://hdl.handle.net/10668/25776
LA en
DS RISalud
RD Apr 11, 2025