Abordaje metabólico en las encefalopatía epilépticas del lactante / Metabolic approach in epileptic encephalopathies in infants
Rev. neurol. (Ed. impr.)
; 64(supl.3): s49-s53, 2017. tab
Article
in Es
| IBECS
| ID: ibc-163056
Responsible library:
ES1.1
Localization: BNCS
RESUMEN
Introducción. Aunque la incidencia global de los errores congénitos del metabolismo es baja, su diagnóstico precoz es fundamental, ya que algunos de ellos tienen tratamiento específico. Desarrollo. Se revisan los principales errores congénitos del metabolismo tratables que pueden cursar como encefalopatía epiléptica de inicio precoz, así como sus marcadores bioquímicos y su tratamiento. Conclusiones. Es importante pensar en la posibilidad de un error congénito del metabolismo con terapia específica, ya que es fundamental que ésta comience lo antes posible para evitar un daño neurológico permanente (AU)
ABSTRACT
Introduction. Although the overall incidence of inborn errors of metabolism is low, their early diagnosis is essential, since some of them have a specific treatment. Development. We review the main treatable inborn errors of metabolism that can present as early-onset epileptic encephalopathies, together with their biochemical markers and their treatment. Conclusions. It is important to think about the possibility of an inborn error of metabolism with a specific therapy, since it is crucial for this to be started as soon as possible in order to prevent permanent neurological damage (AU)
Search on Google
Collection:
06-national
/
ES
Database:
IBECS
Main subject:
Serine
/
Brain Diseases, Metabolic
/
Early Diagnosis
/
Epilepsy
Type of study:
Diagnostic_studies
/
Screening_studies
Limits:
Humans
/
Infant
Language:
Es
Journal:
Rev. neurol. (Ed. impr.)
Year:
2017
Document type:
Article