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在中国南部人口中,针对脂肪酸氧化障碍的新生儿查

Yiming Lin¹, Chunmei Lin¹, Bangbang Lin²

¹Department of Clinical Laboratory, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province, 362000, China.

|January 8, 2024

概括

脂肪酸氧化障碍 (FAOD) 影响了中国南部的1,6996名新生儿,其中61例是酸血症 (PCD),20例是甲基酸血症 (MADD). 基因分析揭示了SLC22A5和ETFDH基因的常见变异.

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:

脂肪酸氧化障碍 (FAOD) 是一种遗传性代谢疾病.
FAOD的发病率和疾病谱在各族群之间有很大差异.
新生儿查 (NBS) 计划旨在早期检测FAOD.

研究的目的:

确定中国南部人口中FAOD的发病率和频谱.
为了研究这个队列中FAODs的遗传特征.
为了了解FAOD患病率的种族差异.

主要方法:

分析了2014年至2022年期间查的643,606名新生儿的NBS结果.
诊断确认和FAODs的分类.
对已识别的FAOD进行基因分析,重点关注关键基因的常见变异.

主要成果:

总的来说,FAOD发生率为1:6996,诊断的病例为92.
酸血症 (PCD) 是最常见的 (61例),其次是甲基酸血症 (MADD) (20例).
在SLC22A5 (例如,c.760C>T) 和ETFDH (例如,c.250G>A) 基因中发现了频繁变异.

结论:

这项研究澄清了FAOD在中国南部的流行率,频谱和遗传格局.
在这个人群中,PCD和MADD是占主导地位的FAOD.
针对SLC22A5和ETFDH的常见变异进行有针对性的基因查至关重要,同时对其他FAOD进行更广泛的基因分析.

关键词:

脂肪酸氧化障碍脂肪酸氧化障碍多重乙-CoA脱酶缺乏症新生儿查新生儿查主要的肉素缺乏症.协奏式质谱测量质谱测量

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