[Metabolic approach in epileptic encephalopathies in infants]
1Hospital Infantil Universitario Nino Jesus, 28009 Madrid, Espana.
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.
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