Inborn errors of neurotransmitter metabolism are ultrarare disorders affecting neurotransmitter biosynthesis, breakdown or transport or their essential cofactors. Neurotransmitter dysfunctions could also result from the impairment of neuronal receptors, intracellular signaling, vesicle release or other synaptic abnormalities. Epilepsy is the main clinical hallmark in some of these diseases (e.g. disorders of GABA metabolism, glycine encephalopathy) while it is infrequent in others (e.g. all the disorders of monoamine metabolism in exception for dihydropteridine reductase deficiency). This review analyzes the epileptogenic mechanisms, the epilepsy phenotypes and the principle for the clinical management of epilepsy in primary and secondary inherited disorders of neurotransmitter metabolism (disorders of GABA, serine and glycine metabolism, disorders of neurotransmitter receptors and secondary neurotransmitter diseases).

神经递质代谢的先天性错误是影响神经递质生物合成、分解或运输或其基本辅助因子的极罕见疾病。神经递质功能障碍也可能由神经元受体、细胞内信号、囊泡释放或其他突触异常的损伤引起。癫痫是其中一些疾病（例如 GABA 代谢障碍、甘氨酸脑病）的主要临床标志，而在其他疾病中则不常见（例如除二氢蝶呤还原酶缺乏症外的所有单胺代谢障碍）。本综述分析了原发性和继发性神经递质代谢障碍（GABA、丝氨酸和甘氨酸代谢障碍，