文章基本信息
- 标题：Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders
- 作者：Takuma Yamamoto ; Hiroyuki Mishima ; Hajime Mizukami 等
- 期刊名称：Molecular Genetics and Metabolism Reports
- 印刷版ISSN：2214-4269
- 出版年度：2015
- 卷号：5
- 页码：26-32
- DOI：10.1016/j.ymgmr.2015.09.005
- 出版社：Elsevier B.V.
- 摘要：
The recent introduction of metabolic autopsy in the field of forensic science has made it possible to detect hidden inherited metabolic diseases. Since the next generation sequencing (NGS) has recently become available for use in postmortem examinations, we used NGS to perform metabolic autopsy in 15 sudden unexpected death in infancy cases. Diagnostic results revealed a case of carnitine palmitoyltransferase II deficiency and some cases of fatty acid oxidation-related gene variants. Metabolic autopsy performed with NGS is a useful method, especially when postmortem biochemical testing is not available.
- 关键词：Sudden unexpected death in infancy ; Metabolic autopsy ; Next generation sequencing ; Fatty acid oxidation disorder ; Carnitine palmitoyltransferase II deficiency
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