Introduction: Familial isolated deficiency of vitamin E (VED or AVED; MIM #277460) is a progressive neurodegenerative disorder resembling Friedreich ataxia. It is caused by the deficiency of α-tocopherol transfer protein that prevents patients from retaining vitamin E. Oral vitamin E supplements are an accepted treatment, but detailed dosage recommendations and reports on long-term therapeutic results are scarce. Methods: The first patient with VED was discovered at our institution at the age of 12 years and has since been followed with clinical, neurophysiological, neuroradiological, and biochemical investigations to his present age of 52 years. For the last 36 years, the patient has scrupulously followed a custom-made high-dose vitamin E supplement regimen that we devised on the basis of studies of his metabolism of vitamin E. Results: Over the long period of observation, the patient has remained in good general health and has not shown progression of neurological symptoms and signs. His vitamin E plasma levels were always moderately above the normal range. During short interruptions of vitamin E supplements, vitamin E levels fell rapidly, even after years of massive supplementation. Discussion: In this VED patient, a specified and carefully controlled high-dose vitamin E therapy has prevented any recognizable progression of the neurodegenerative process over more than 3 decades of observation.

中文翻译：

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经过 36 年的受控补充治疗后，第一个被确认的遗传性维生素 E 缺乏症患者稳定

简介：家族性孤立性维生素 E 缺乏症（VED 或 AVED；MIM #277460）是一种类似于弗里德赖希共济失调的进行性神经退行性疾病。它是由 α-生育酚转移蛋白缺乏导致患者无法保留维生素 E 引起的。口服维生素 E 补充剂是一种公认​​的治疗方法，但详细的剂量建议和长期治疗结果的报告很少。方法：我们机构发现了第一例 VED 患者，当时他 12 岁，此后进行了临床、神经生理学、神经放射学和生化检查，直至现年 52 岁。在过去的 36 年中，该患者一直严格遵循我们根据其维生素 E 代谢研究设计的定制的高剂量维生素 E 补充方案。 结果：在长期的观察中，患者总体健康状况良好，没有出现神经系统症状和体征的进展。他的维生素 E 血浆水平总是略高于正常范围。在维生素 E 补充剂的短暂中断期间，即使经过多年的大量补充，维生素 E 水平也会迅速下降。讨论：在该 VED 患者中，经过 3 年多的观察，特定且精心控制的高剂量维生素 E 疗法阻止了任何可识别的神经退行性疾病进展。维生素 E 水平迅速下降，即使经过多年的大量补充。讨论：在该 VED 患者中，经过 3 年多的观察，特定且精心控制的高剂量维生素 E 疗法阻止了任何可识别的神经退行性疾病进展。维生素 E 水平迅速下降，即使经过多年的大量补充。讨论：在该 VED 患者中，经过 3 年多的观察，特定且精心控制的高剂量维生素 E 疗法阻止了任何可识别的神经退行性疾病进展。