关键词: 遗传代谢病, 癫痫, 癫痫综合征

Abstract: Inherited metabolic diseases are a group of single-gene genetic diseases characterized by abnormal biochemical metabolism. Seizures are one of the common clinical manifestations of inherited metabolic diseases. More than 5% of the patients with epilepsy have metabolic etiology. These may include metabolic errors in small molecules involved in amino acid and glucose metabolism，metal metabolism，vitamin metabolism，neurotransmitters-related metabolic disorders，or organelles diseases in mitochondria and lysosomes，which present with seizures or epileptic syndrome. Because these patients have no specific clinical manifestations，biochemical and genetic analysis are the main tools for diagnosis. Here we review the clinical features auxiliary examinations and treatment of metabolic epilepsy. Some cases of metabolic epilepsy may have improved symptoms and better prognosis after treatment.

Key words: inherited metabolic diseases, epilepsy, epilepsy syndrome