title: Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.
abstract: Inborn errors of metabolism (IEMs) represent poorly known causes of epilepsy in adulthood. Although rare, these are important to recognize for several reasons: some IEMs respond to specific treatments, some antiepileptic drugs interfering with metabolic pathways may worsen the clinical condition, and specific genetic counselling can be provided. We review IEMs potentially revealed by epilepsy that can be encountered in an adult neurology department. We distinguished progressive myoclonic epilepsies (observed in some lysosomal storage diseases, respiratory chain disorders and Lafora disease), from other forms of epilepsies (observed in disorders of intermediary metabolism, including porphyrias, creatine metabolism defects, glucose transporter (GLUT-1) deficiency, Wilson disease or succinic semialdehyde dehydrogenase deficiency). We propose a diagnostic approach and point out clinical, radiological and electrophysiological features that suggest an IEM in an epileptic patient.
authors.affiliation: Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, The Salpêtrière Hospital, Pierre et Marie Curie University, Paris, France. frederic.sedel@psl.aphp.fr
authors.forename: F
authors.initials: F
authors.lastname: Sedel
authors.forename: I
authors.initials: I
authors.lastname: Gourfinkel-An
authors.forename: O
authors.initials: O
authors.lastname: Lyon-Caen
authors.forename: M
authors.initials: M
authors.lastname: Baulac
authors.forename: J-M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: V
authors.initials: V
authors.lastname: Navarro
mesh_terms: D000328:Adult; D003663:Decision Trees; D004827:Epilepsy / Q000175:diagnosis* / Q000209:etiology*; D005260:Female; D006801:Humans; D008297:Male; D053858:Metabolic Networks and Pathways; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis*; D008875:Middle Aged; D009422:Nervous System Diseases / Q000150:complications; D012640:Seizures / Q000150:complications; D013577:Syndrome