PMID: 28524220May 20, 2017Paper

Metabolic approach in epileptic encephalopathies in infants

Revista de neurologia
L Lopez-Marin

Abstract

Although the overall incidence of inborn errors of metabolism is low, their early diagnosis is essential, since some of them have a specific treatment. 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. 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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