氨基酸乱和有机酸的白质异常
1Department of Clinical Sciences, University of Lund, Lund, Sweden; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Department of Genetics and Neurology, Groningen, The Netherlands.
Handbook of clinical neurology
|September 25, 2024
概括
神经学家越来越多地诊断出神经系统症状的代谢天生的错误 (IEM). 基因测序的进步有助于识别这些复杂的代谢疾病,这些疾病通常被传统的生物化学测试遗漏.
科学领域:
- 生物化学 生物化学
- 神经学 神经学
- 遗传学 是一个遗传学.
背景情况:
- 天生的代谢错误 (IEMs) 传统上是由儿科医生和内科医生管理的.
- 在IEM中神经系统的参与通常仅发生在症状出现后,如发作或发育迟缓.
- 下一代测序揭示了越来越多的IEMs主要呈现神经症状.
研究的目的:
- 为了突出神经病学家在诊断IEM中日益增长的作用.
- 讨论IEMs,特别是氨基酸合成缺陷,这些缺陷与神经症状有关,可能会逃避经典的生物化学测试.
- 审查以代谢物升高和相关的白质变化为特征的IEM.
主要方法:
- 对IEM的审查,重点是神经系统表现.
- 讨论氨基酸合成途径中的缺陷 (血清素,谷氨胺,プロ林,阿斯巴拉金).
- 检查影响分解途径的经典氨基酸和有机酸疾病.
主要成果:
- 许多IEM,特别是那些影响氨基酸合成的IEM,主要表现为神经症状,如低髓和白质异常.
- 对这些合成缺陷的生物化学测试可能会显示正常或低的氨基酸水平,使诊断复杂化.
- 氨基酸和有机酸分解途径的缺陷通常以升高的代谢物为特征,并与MRI上的白质变化有关.
结论:
- 神经学家在识别IEM方面发挥着关键作用,特别是那些具有主要神经症状的人.
- 下一代测序对于诊断传统生物化学方法无法检测到的IEM至关重要.
- 了解IEM的各种表现,包括影响氨基酸代谢的表现,对于及时诊断和管理至关重要.
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