[Metabolic approach in epileptic encephalopathies in infants].

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.