Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is an autosomal recessive condition due to a deficiency of α‐aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE‐ALDH7A1 is a developmental and epileptic encephalopathy that was historically and empirically treated with pharmacologic doses of pyridoxine. Despite adequate seizure control, most patients with PDE‐ALDH7A1 were reported to have developmental delay and intellectual disability. To improve outcome, a lysine‐restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy. These lysine‐reduction therapies have resulted in improved biochemical parameters and cognitive development in many but not all patients. The goal of these consensus guidelines is to re‐evaluate and update the two previously published recommendations for diagnosis, treatment, and follow‐up of patients with PDE‐ALDH7A1. Members of the International PDE Consortium initiated evidence and consensus‐based process to review previous recommendations, new research findings, and relevant clinical aspects of PDE‐ALDH7A1. The guideline development group included pediatric neurologists, biochemical geneticists, clinical geneticists, laboratory scientists, and metabolic dieticians representing 29 institutions from 16 countries. Consensus guidelines for the diagnosis and management of patients with PDE‐ALDH7A1 are provided.

中文翻译：

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α-氨基己二酸半醛脱氢酶缺乏所致吡哆醇依赖性癫痫的诊断和治疗共识指南

吡哆醇依赖性癫痫（PDE-ALDH7A1）是一种常染色体隐性遗传病，由于缺乏α-氨基己二酸半醛脱氢酶，这是赖氨酸氧化的关键酶。PDE-ALDH7A1 是一种发育性和癫痫性脑病，历史上和经验上都用药物剂量的吡哆醇治疗。尽管癫痫发作得到充分控制，但据报道大多数 PDE-ALDH7A1 患者存在发育迟缓和智力障碍。为了改善结果，赖氨酸限制饮食和通过使用药理学剂量的精氨酸来竞争性抑制赖氨酸转运已被推荐作为辅助治疗。这些赖氨酸减少疗法已经改善了许多但不是所有患者的生化参数和认知发展。这些共识指南的目标是重新评估和更新先前发布的两项关于 PDE-ALDH7A1 患者诊断、治疗和随访的建议。国际 PDE 联盟的成员发起了基于证据和共识的流程，以审查 PDE-ALDH7A1 的先前建议、新研究发现和相关临床方面。指南制定小组包括代表来自 16 个国家的 29 个机构的儿科神经病学家、生化遗传学家、临床遗传学家、实验室科学家和代谢营养师。提供了 PDE-ALDH7A1 患者诊断和管理的共识指南。国际 PDE 联盟的成员发起了基于证据和共识的流程，以审查 PDE-ALDH7A1 的先前建议、新研究发现和相关临床方面。指南制定小组包括代表来自 16 个国家的 29 个机构的儿科神经病学家、生化遗传学家、临床遗传学家、实验室科学家和代谢营养师。提供了 PDE-ALDH7A1 患者诊断和管理的共识指南。国际 PDE 联盟的成员发起了基于证据和共识的流程，以审查 PDE-ALDH7A1 的先前建议、新研究发现和相关临床方面。指南制定小组包括代表来自 16 个国家的 29 个机构的儿科神经病学家、生化遗传学家、临床遗传学家、实验室科学家和代谢营养师。提供了 PDE-ALDH7A1 患者诊断和管理的共识指南。