在过氧体生物发生障碍中的二氧酸基尼丁生物标志物
Michael F Wangler1, Barbara Lesko2, Rejwi Dahal2
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States of America; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, United States of America.
Molecular genetics and metabolism
|August 11, 2023
概括
乙卡尼丁测试显示,在过氧体生物发生障碍 (PBD) 患者中,二糖乙卡尼丁异常普遍存在. 升高的C20-DC和C22-DC是诊断这些遗传代谢疾病的关键生物标志物.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 过氧体是具有不同代谢作用的重要器官.
- 遗传性过氧体疾病 (PBDs) 存在,临床结果各异.
- 乙卡尼丁测试已经显示出用于诊断某些过氧体疾病的潜力.
研究的目的:
- 调查在过氧体生物发生障碍 (PBDs) 中的阿西尔卡尼丁测试的诊断效用.
- 为了识别用于PBD检测的新型乙卡尼丁生物标志物.
- 为了评估血和新生儿查血斑中的乙卡尼丁测试.
主要方法:
- 应用液体染色学-并联质谱学 (LC-MS/MS) 用于乙甲胺的分析.
- 分析了来自598人的血样本,其中包括19名患有PEX1或PEX6缺乏症的PBD患者.
- 检查了新生儿查血点卡,以检查乙卡尼丁异常.
主要成果:
- 在PBD患者中观察到显著增加的中长链至非常长链二糖酸 (C8-DC至C22-DC).
- 马洛尼尔卡尼丁 (C3-DC) 和非常长链物种 (C20-DC,C22-DC) 最近被确定为高.
- 在PBD患者中,C20-DC和C22-DC显示出高灵敏度 (100%和68%),并且在非PBD患者中很少升高.
- 在一个患有PEX6缺乏PBD的新生儿身上检测到二碳酸基卡尼丁异常.
- 在x-链接上腺核衰竭 (x-ALD) 患者中发现了有限的异常,这表明诊断效用.
结论:
- 广泛的二糖性乙卡尼丁异常是PBDs的特征.
- 特定的乙卡尼丁,特别是C20-DC和C22-DC,是用于PBD诊断的有价值的生物标志物.
- 乙卡尼丁检测可以帮助区分PBD,并在新生儿查中潜在地缩小差异诊断.
关键词:
在过氧体疾病中的甲胺生物标志物.乙卡尼丁的个人资料分析分析.在LC-MS/MS中对乙卡尼丁进行分析.新生儿查 乙卡尼丁与X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy是指X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy是指X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy是指X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy是指X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy是指X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy相关概念视频
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