Epilepsy in inborn errors of metabolism

摘要: Although inborn errors of metabolism are rarely found to be the cause epilepsy, seizures a frequent symptom in metabolic disorders. In few these, epilepsy responds specific treatment by diet or supplementation. However, most, no such is available and conventional antiepileptic drugs must used, often with great success. because uncontrolled will hamper development may even lead further cerebral damage, necessary. Seizure types for particular disorder, nor EEG findings. Other symptoms findings taken into account order achieve diagnosis and, some cases, management. We review main characteristics due energy metabolism, disturbed neuronal function accumulation storage products, toxic effects neurotransmitter systems. also discuss vitamin-responsive epilepsies number other disorders focusing on possible pathogenetic mechanisms their implication treatment.