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本文综述了维生素B_6依赖性癫(PDE)的致病机制、诊断和治疗方法。抑制性神经递质γ-氨基丁酸(GABA)缺乏是导致PDE发作的直接原因,而ALDH7A1基因突变引起的α-氨基己二酸半醛(α-AASA)脱氢酶形成受阻则是GABA缺乏的根本原因。PDE的临床表现为癫发作对常规抗癫药物不敏感,但对高剂量维生素B_6敏感,α-AASA和哌啶酸(PA)为诊断PDE的血清标志物。通过赖氨酸限制饮食可减少神经毒性物质的积聚,以改善神经发育迟滞问题,但该结论尚需长期临床研究证实。建议继续研究维生素B_6的安全使用剂量和赖氨酸限制饮食对于控制癫发作的疗效。
This article reviews the pathogenesis, diagnosis and treatment of vitamin B_6-dependent epilepsy (PDE). Inhibitory neurotransmitter γ-aminobutyric acid (GABA) deficiency is the direct cause of PDE attack, and ALDH7A1 gene mutation caused by α-aminoadipate dehydrogenase (α-AASA) dehydrogenase formation is the lack of GABA The root cause. The clinical manifestations of PDE are epileptic seizures are not sensitive to conventional antiepileptic drugs, but sensitive to high doses of vitamin B6, α-AASA and pipecolic acid (PA) are serum markers for the diagnosis of PDE. Dietary restriction through lysine can reduce the accumulation of neurotoxic substances to improve neurodevelopmental problems, but the conclusions still need long-term clinical studies confirmed. It is recommended to continue to study the safe dose of vitamin B_6 and lysine restriction diet for the control of epileptic seizures.