婴儿猝死综合征中采用下一代测序技术的代谢尸检：脂肪酸氧化障碍的尸检诊断
Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.
作者信息
Yamamoto Takuma, Mishima Hiroyuki, Mizukami Hajime, Fukahori Yuki, Umehara Takahiro, Murase Takehiko, Kobayashi Masamune, Mori Shinjiro, Nagai Tomonori, Fukunaga Tatsushige, Yamaguchi Seiji, Yoshiura Koh-Ichiro, Ikematsu Kazuya
机构信息
Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki, Nagasaki 852-8523, Japan.
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8523, Japan.
出版信息
Mol Genet Metab Rep. 2015 Oct 2;5:26-32. doi: 10.1016/j.ymgmr.2015.09.005. eCollection 2015 Dec.
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.
法医科学领域最近引入的代谢尸检使得检测隐匿的遗传性代谢疾病成为可能。由于下一代测序（NGS）最近已可用于尸检，我们使用NGS对15例婴儿猝死意外病例进行了代谢尸检。诊断结果显示1例肉碱棕榈酰转移酶II缺乏症以及一些脂肪酸氧化相关基因变异病例。使用NGS进行的代谢尸检是一种有用的方法，尤其是在无法进行死后生化检测时。
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