Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion

Kenichiro Yamada; Kaori Aiba; Yasuyuki Kitaura; Yusuke Kondo; Noriko Nomura; Yuji Nakamura; Daisuke Fukushi; Kei Murayama; Yoshiharu Shimomura; James Pitt; Seiji Yamaguchi; Kenji Yokochi; Nobuaki Wakamatsu

doi:10.1136/jmedgenet-2015-103231

Article info

Biochemical genetics

Original article

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion

Authors

Kenichiro Yamada Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan PubMed articles Google scholar articles
Kaori Aiba Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan PubMed articles Google scholar articles
Yasuyuki Kitaura Department of Applied Molecular Biosciences, Graduate School of Bioagricultural Sciences, Nagoya University, Nagoya, Aichi, Japan PubMed articles Google scholar articles
Yusuke Kondo Department of Applied Molecular Biosciences, Graduate School of Bioagricultural Sciences, Nagoya University, Nagoya, Aichi, Japan PubMed articles Google scholar articles
Noriko Nomura Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan PubMed articles Google scholar articles
Yuji Nakamura Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan PubMed articles Google scholar articles
Daisuke Fukushi Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan PubMed articles Google scholar articles
Kei Murayama Department of Metabolism, Chiba Children's Hospital, Chiba, Japan PubMed articles Google scholar articles
Yoshiharu Shimomura Department of Applied Molecular Biosciences, Graduate School of Bioagricultural Sciences, Nagoya University, Nagoya, Aichi, Japan PubMed articles Google scholar articles
James Pitt Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
Seiji Yamaguchi Department of Pediatrics, Faculty of Medicine, Shimane University, Izumo, Shimane, Japan PubMed articles Google scholar articles
Kenji Yokochi Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan PubMed articles Google scholar articles
Nobuaki Wakamatsu Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan PubMed articles Google scholar articles

Correspondence to Dr Nobuaki Wakamatsu, Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, 713-8 Kamiya-cho, Kasugai, Aichi 480-0392, Japan; nwaka{at}inst-hsc.jp

View Full Text

Citation

Yamada K, Aiba K, Kitaura Y, et al

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion

Journal of Medical Genetics 2015;52:691-698.

Publication history

Received May 10, 2015
Revised July 11, 2015
Accepted July 13, 2015
First published August 6, 2015.

Online issue publication

February 09, 2017

Article Versions

Previous version (27 April 2016).
You are viewing the most recent version of this article.

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Copyright information

Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions

Log in using your username and password

Main menu

Log in using your username and password

You are here

Authors

Citation

Publication history

Article Versions

Request permissions

Copyright information

Read the full text or download the PDF:

Log in using your username and password