Shi Yuqing, Wei Zihan, Feng Yan, Gan Yajing, Li Guoyan, Deng Yanchun
Xi'an Medical University, Xi'an, 710021, People's Republic of China.
Department of Neurology, Xijing Hospital, Fourth Military Medical University, 127 West Changle Road, Xi'an, 710032, People's Republic of China.
Acta Epileptol. 2025 Apr 1;7(1):23. doi: 10.1186/s42494-025-00201-x.
Epilepsy is a prevalent paroxysmal disorder in the field of neurology. Among the six etiologies of epilepsy, metabolic causes are relatively uncommon in clinical practice. Metabolic disorders encompass amino acid metabolism disorders, organic acid metabolism disorders, and other related conditions. Seizures resulting from nucleic acid/nucleotide metabolism disorders are even more infrequent. This review provides an overview of several studies on nucleic acid/nucleotide metabolism disorders associated with epilepsy, including adenosine succinate lyase deficiency, Lesch-Nyhan syndrome, and aminoimidazole carboxamide ribonucleotide transformylase/inosine monophosphate cyclohydrolase (ATIC) deficiency, among others. The potential pathogenesis, phenotypic features, diagnostic pathways, and therapeutic approaches of these diseases are discussed in this review. The goal is to help clinicians make an accurate diagnosis when encountering rare nucleic acid/nucleotide metabolism disorders with multi-system symptoms and manifestations of epilepsy.
癫痫是神经病学领域中一种常见的发作性疾病。在癫痫的六种病因中，代谢性病因在临床实践中相对少见。代谢紊乱包括氨基酸代谢紊乱、有机酸代谢紊乱及其他相关病症。由核酸/核苷酸代谢紊乱引起的癫痫发作更为罕见。本综述概述了几项关于与癫痫相关的核酸/核苷酸代谢紊乱的研究，包括腺苷琥珀酸裂解酶缺乏症、莱施-奈恩综合征以及氨基咪唑甲酰胺核糖核苷酸转甲酰酶/肌苷单磷酸环水解酶（ATIC）缺乏症等。本文讨论了这些疾病的潜在发病机制、表型特征、诊断途径和治疗方法。目的是帮助临床医生在遇到具有多系统症状和癫痫表现的罕见核酸/核苷酸代谢紊乱时做出准确诊断。
