title: Epilepsy in children--when should we think neurometabolic disease?
abstract: Seizures are often the first manifestation of central nervous system dysfunction and are common in many inborn errors of metabolism, especially in neonates, infants, and children. A high index of suspicion is required to diagnose inborn errors of metabolism as the cause of seizures. It is also important to recognize these metabolic disorders early, as specific disease-modifying treatments are available for some with favorable long-term outcomes. This review discusses the classification of metabolic disorders as a cause of seizures based on pathogenesis and age and proposes a tiered approach for cost-effective diagnosis of metabolic disorders.
authors.affiliation: Division of Child and Adolescent Neurology, Mayo Clinic Children's Center, Rochester, MN 55905, USA.
authors.forename: Radhika
authors.initials: R
authors.lastname: Dhamija
authors.forename: Marc C
authors.initials: MC
authors.lastname: Patterson
authors.forename: Elaine C
authors.initials: EC
authors.lastname: Wirrell
mesh_terms: D001928:Brain Diseases, Metabolic / Q000145:classification / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D004827:Epilepsy / Q000209:etiology* / Q000517:prevention & control; D006801:Humans