title: Epilepsy in Inborn Errors of Metabolism With Therapeutic Options.
abstract: Inborn errors of metabolism (IEM) are rare conditions that represent more than 1000 diseases, with a global prevalence of approximately 1:2000 individuals. Approximately, 40%-60% of IEM may present with epilepsy as one of the main neurologic signs. Epilepsy in IEM may appear at any age (fetal, newborn, infant, adolescent, or even adult). Different pathophysiological mechanisms may be responsible for the clinical phenotype, such as disturbances in energy metabolism (mitochondrial and fatty oxidation disorders, GLUT-1, and cerebral creatine deficiency), accumulation of complex molecules (lysosomal storage disorders), toxic mechanisms (organic acidurias and urea cycle disorders), or impairment of neurotransmission. Early diagnosis and, in some cases, an effective treatment may result in an excellent evolution of the IEM, in particularly seizure control. This review attempts to delineate a summary of IEM that may present with seizures or epilepsy and emphasizes the management in treatable conditions.
authors.affiliation: From the *Neurology Department, Hospital Sant Joan de Déu, Barcelona University, Barcelona, Spain; Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Institute of Pediatric Research, Sant Joan de Déu, Barcelona, Spain. Electronic address: campistol@hsjdbcn.es.
authors.forename: Jaume
authors.initials: J
authors.lastname: Campistol
mesh_terms: D004827:Epilepsy / Q000209:etiology*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000628:therapy*