Treatable metabolic epilepsies

Abstract

Certain inherited metabolic disorders presenting with epilepsy can be treated with disease-specific diet, vitamin, amino acid, or cofactor supplementations. In those disorders disease-specific therapy is successful to achieve good seizure control and improve long-term neurodevelopmental outcome. For this reason, intractable epilepsy with global developmental delay or history of developmental regression warrants detailed metabolic investigations for the possibility of an underlying treatable inherited metabolic disorder, which should be undertaken as first-line investigations.