Abstract：
Inborn errors of metabolism are genetic disorders that need to be recognized as early as possible because treatment may be available. In late-onset forms, core symptoms are movement disorders, psychiatric symptoms, and cognitive impairment. Eye movement disorders are considered to be frequent too, although specific knowledge is lacking. We describe and analyze eye movements in patients with an inborn error of metabolism, and see whether they can serve as an additional clue in the diagnosis of particularly late-onset inborn errors of metabolism. Demographics, disease characteristics, and treatment data were collected. All patients underwent a standardized videotaped neurological examination and a video-oculography. Videos are included. We included 37 patients with 15 different inborn errors of metabolism, including 18 patients with a late-onset form. With the exception of vertical supranuclear gaze palsy in Niemann-Pick type C and external ophthalmolplegia in Kearns-Sayre syndrome, no relation was found between the type of eye movement disorder and the underlying metabolic disorder. Movement disorders were present in 29 patients (78%), psychiatric symptoms in 14 (38%), and cognitive deficits in 26 patients (70%). In 87% of the patients with late-onset disease, eye movement disorders were combined with one or more of these core symptoms. To conclude, eye movement disorders are present in different types of inborn errors of metabolism, but are often not specific to the underlying disorder. However, the combination of eye movement disorders with movement disorders, psychiatric symptoms, or cognitive deficits can serve as a diagnostic clue for an underlying late-onset inborn error of metabolism.
摘要：
先天性代谢错误是需要尽早认识的遗传性疾病，因为可能有治疗方法。在迟发性形式中，核心症状是运动障碍，精神症状,和认知障碍。眼球运动障碍也被认为是常见的，虽然缺乏具体的知识。我们描述和分析患有先天性代谢错误的患者的眼球运动，看看它们是否可以作为诊断特别是晚发性先天性代谢错误的额外线索。人口统计,疾病特征，并收集治疗数据。所有患者均接受了标准化的视频神经系统检查和视频眼图检查。包括视频。我们纳入了37名患有15种不同先天性代谢错误的患者，包括18例迟发性患者。除了Niemann-PickC型的垂直核上凝视麻痹和Kearns-Sayre综合征的外部眼麻痹外，未发现眼球运动障碍的类型与潜在的代谢障碍之间的关系。29例患者（78%）存在运动障碍，14例(38%)出现精神症状，和认知障碍26例（70％）。在87％的晚发性疾病患者中，眼球运动障碍合并有这些核心症状中的一种或多种.最后，眼球运动障碍存在于不同类型的先天性代谢错误中，但通常不是特定于潜在的疾病。然而,眼球运动障碍与运动障碍的结合，精神症状,或者认知缺陷可以作为潜在的晚发性先天性代谢错误的诊断线索。
