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

Takuma Yamamoto; Hiroyuki Mishima; Hajime Mizukami; Yuki Fukahori; Takahiro Umehara; Takehiko Murase; Masamune Kobayashi; Shinjiro Mori; Tomonori Nagai; Tatsushige Fukunaga; Seiji Yamaguchi; Koh-Ichiro Yoshiura; Kazuya Ikematsu

doi:10.1016/j.ymgmr.2015.09.005

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

Mol Genet Metab Rep. 2015 Oct 2:5:26-32. doi: 10.1016/j.ymgmr.2015.09.005. eCollection 2015 Dec.

Authors

Affiliations

¹ 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.
² Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8523, Japan.
³ Department of Legal Medicine, Kanazawa Medical University, Ishikawa 920-0293, Japan.
⁴ Tokyo Medical Examiner's Office, Tokyo Metropolitan Government, Tokyo 112-0012, Japan.
⁵ Department of Forensic Medicine, Tokyo Medical University, Tokyo 160-8402, Japan.
⁶ Department of Pediatrics, Shimane University Faculty of Medicine, Shimane 693-8501, Japan.

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.

Keywords: Carnitine palmitoyltransferase II deficiency; Fatty acid oxidation disorder; Metabolic autopsy; Next generation sequencing; Sudden unexpected death in infancy.