Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders

• 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

Abstract

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.

Molecular Genetics and Metabolism Reports, 5, pp.26-32; 2015

Journal

• Molecular Genetics and Metabolism Reports

  Molecular Genetics and Metabolism Reports 5 26-32, 2015-12

  Elsevier BV

Keywords

• Carnitine palmitoyltransferase II deficiency
• Fatty acid oxidation disorder
• Metabolic autopsy
• Next generation sequencing
• Sudden unexpected death in infancy

Details

• CRID: 1050287297240311424
• NII Article ID: 120006986854
• ISSN: 22144269
• HANDLE: 10069/36028
• Web Site: https://nagasaki-u.repo.nii.ac.jp/records/4887
• Text Lang: en
• Article Type: journal article
• Data Source:
  • IRDB
  • CiNii Articles