Child Neurology and Psychiatry Unit-Department of Human Neuroscience, Sapienza Università di Roma-Umberto I Policlinico di Roma, Via dei Sabelli, 108 - 00141, Roma, Italy.
Metab Brain Dis. 2021 Jan;36(1):29-43. doi: 10.1007/s11011-020-00635-x. Epub 2020 Oct 23.
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).
先天性神经递质代谢异常是一组极罕见的疾病，影响神经递质的生物合成、分解或转运，或影响其必需的辅助因子。神经递质功能障碍也可能是由于神经元受体、细胞内信号转导、囊泡释放或其他突触异常所致。在这些疾病中，癫痫是一些疾病（如 GABA 代谢紊乱、甘氨酸脑病）的主要临床特征，而在其他疾病（如除二氢喋呤还原酶缺乏症外的所有单胺代谢紊乱）中则不常见。本综述分析了原发性和继发性遗传性神经递质代谢紊乱（GABA、丝氨酸和甘氨酸代谢紊乱、神经递质受体紊乱和继发性神经递质疾病）中癫痫的发病机制、癫痫表型以及癫痫的临床管理原则。
