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.
Title: Abordaje metabolico en las encefalopatias epilepticas del lactante.
Introduccion. Aunque la incidencia global de los errores congenitos del metabolismo es baja, su diagnostico precoz es fundamental, ya que algunos de ellos tienen tratamiento especifico. Desarrollo. Se revisan los principales errores congenitos del metabolismo tratables que pueden cursar como encefalopatia epileptica de inicio precoz, asi como sus marcadores bioquimicos y su tratamiento. Conclusiones. Es importante pensar en la posibilidad de un error congenito del metabolismo con terapia especifica, ya que es fundamental que esta comience lo antes posible para evitar un daño neurologico permanente.