Metabolic epilepsy: An update

Laura Papetti, Pasquale Parisi, Vincenzo Leuzzi, Francesca Nardecchia, Francesco Nicita, Fabiana Ursitti, Francesca Marra, Maria Chiara Paolino, Alberto Spalice

Research output: Contribution to journalArticlepeer-review


Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Seizures are frequent symptom in inborn errors of metabolism, with no specific seizure types or EEG signatures. The diagnosis of a genetic defect or an inborn error of metabolism often results in requests for a vast array of biochemical and molecular tests leading to an expensive workup. However a specific diagnosis of metabolic disorders in epileptic patients may provide the possibility of specific treatments that can improve seizures. In a few metabolic diseases, epilepsy responds to specific treatments based on diet or supplementation of cofactors (vitamin-responsive epilepsies), but for most of them specific treatment is unfortunately not available, and conventional antiepileptic drugs must be used, often with no satisfactory success. In this review we present an overview of metabolic epilepsies based on various criteria such as treatability, age of onset, seizure type, and pathogenetic background.

Original languageEnglish
Pages (from-to)827-841
Number of pages15
JournalBrain and Development
Issue number9
Publication statusPublished - Oct 2013


  • Children
  • Encephalopathy
  • Genetics
  • Inherited metabolic disorders
  • Metabolic epilepsy
  • Metabolism

ASJC Scopus subject areas

  • Clinical Neurology
  • Developmental Neuroscience
  • Pediatrics, Perinatology, and Child Health


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