吡哆醇和精氨酸补充联合治疗以及赖氨酸限制饮食对吡哆醇依赖性癫痫患者的影响：一项全面的系统综述

IF 3.2 Q2 NUTRITION & DIETETICS

Current Developments in Nutrition Pub Date : 2025-08-01 DOI:10.1016/j.cdnut.2025.107504

Ali Jafari , Mohammad Mehdi Abbasi , Hamid Abbasi , Sama Rahnemayan , Farnush Bakhshimoghaddam , Saeid Doaei

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引用次数: 0

摘要

吡哆醇依赖性癫痫（PDE）是一种罕见的神经代谢性疾病，其特征是ALDH7A1基因的双等位基因致病性突变。包括吡哆醇、精氨酸补充（AS）和赖氨酸限制饮食（LRD）的联合治疗经常被报道通过减少神经毒性赖氨酸代谢物、改善癫痫发作管理和增强神经发育结局来有效改善PDE。目的：本研究旨在探讨单（吡哆醇）、双（吡哆醇联合AS或LRD）和三联治疗方法对诊断为PDE的个体的影响。方法在Scopus、Embase、Web of Science、PubMed、b谷歌Scholar等国际数据库中进行广泛检索，查找2024年11月12日之前发表的相关文献。所选文章的方法学质量评估采用纽卡斯尔-渥太华量表和乔安娜布里格斯研究所工具进行评估。结果在回顾的2097项研究中，38项符合纳入标准，涵盖了PDE患者的治疗方法，包括单药治疗（22篇）、双药治疗（9篇）和三联治疗（7篇）。结果表明，吡哆醇单药治疗是一种非常有效的PDE一线治疗方法，可改善癫痫发作控制，且认知能力下降最小。将吡哆醇与LRD或AS联合用于代谢问题，减少神经毒性代谢物并增强认知和运动功能。早期三联治疗，在生命的前6个月内，对PDE患者的癫痫发作管理和认知表现有显著的益处。结论综上所述，吡哆醇给药是非常有效的，特别是当与AS和LRD联合使用时。三联疗法显示了改善癫痫控制和认知功能的希望，特别是在早期开始。进一步的研究是有必要的。

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Combination Therapy with Pyridoxine and Arginine Supplementations along with a Lysine-Restricted Diet in Individuals with Pyridoxine-Dependent Epilepsy: A Comprehensive Systematic Review

Background

Pyridoxine-dependent epilepsy (PDE) is identified as a rare neurometabolic disease marked by biallelic pathogenic mutations of the ALDH7A1 gene. A combination therapy involving pyridoxine, arginine supplementation (AS), and a lysine-restricted diet (LRD) was frequently reported to effectively improve PDE through reducing neurotoxic lysine metabolites, improving seizure management, and enhancing neurodevelopmental outcomes.

Objectives

The study sought to investigate the effects of mono-(pyridoxine), dual- (pyridoxine combined with AS or LRD), and triple-therapy approaches in individuals diagnosed with PDE.

Methods

An extensive search was carried out across international databases, comprising Scopus, Embase, Web of Science, PubMed, and Google Scholar, to find relevant publications published before 12 November, 2024. The methodological quality assessment of chosen articles was evaluated utilizing the Newcastle-Ottawa Scale and the Joanna Briggs Institute tool.

Results

Among 2097 studies reviewed, 38 met inclusion criteria, covering treatment methods for individuals with PDE including monotherapy (22 articles), dual therapy (9 articles), and triple therapy (7 articles). The results indicated that pyridoxine monotherapy is a highly effective first-line treatment in PDE that improves seizure control with minimal cognitive decline. Combining pyridoxine with an LRD or AS targets metabolic issues, reducing neurotoxic metabolites and enhancing cognitive and motor functions. Early triple therapy, within the first 6 months of life, exhibited significant benefits for seizure management and cognitive performance in patients with PDE.

Conclusions

In summary, administration of pyridoxine is highly effective, particularly when combined with AS and an LRD. Triple therapy illustrates promise for improved seizure control and cognitive function, especially when initiated early. Further research is warranted.

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