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

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 1...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471402/
https://www.ncbi.nlm.nih.gov/pubmed/28649538
http://dx.doi.org/10.1016/j.ymgmr.2015.09.005
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author 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
author_facet 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
author_sort Yamamoto, Takuma
collection PubMed
description 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.
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spelling pubmed-54714022017-06-23 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 Mol Genet Metab Rep Research Paper 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. Elsevier 2015-10-02 /pmc/articles/PMC5471402/ /pubmed/28649538 http://dx.doi.org/10.1016/j.ymgmr.2015.09.005 Text en © 2015 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Research Paper
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
Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders
title Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders
title_full Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders
title_fullStr Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders
title_full_unstemmed Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders
title_short Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders
title_sort metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: postmortem diagnosis of fatty acid oxidation disorders
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471402/
https://www.ncbi.nlm.nih.gov/pubmed/28649538
http://dx.doi.org/10.1016/j.ymgmr.2015.09.005
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