BPG is committed to discovery and dissemination of knowledge
Articles Published Processes
7/5/2024 10:19:29 AM | Browse: 61 | Download: 275
 |
Received |
|
2024-04-11 08:39 |
 |
Peer-Review Started |
|
2024-04-11 08:39 |
 |
To Make the First Decision |
|
|
 |
Return for Revision |
|
2024-05-09 23:37 |
 |
Revised |
|
2024-05-28 07:10 |
 |
Second Decision |
|
2024-06-17 02:47 |
 |
Accepted by Journal Editor-in-Chief |
|
|
 |
Accepted by Executive Editor-in-Chief |
|
2024-06-17 09:05 |
 |
Articles in Press |
|
2024-06-17 09:05 |
 |
Publication Fee Transferred |
|
2024-06-22 02:47 |
 |
Edit the Manuscript by Language Editor |
|
2024-06-30 20:59 |
 |
Typeset the Manuscript |
|
2024-07-01 09:11 |
 |
Publish the Manuscript Online |
|
2024-07-05 10:19 |
ISSN |
2307-8960 (online) |
Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/ |
Copyright |
© The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved. |
Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
|
Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
|
Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
Website |
http://www.wjgnet.com |
Category |
Genetics & Heredity |
Manuscript Type |
Case Report |
Article Title |
Fatal multiple acyl-CoA dehydrogenase deficiency caused by ETFDH gene mutation: A case report
|
Manuscript Source |
Unsolicited Manuscript |
All Author List |
Xue-Xia Li, Xiao-Nan Yang, Hu-Dan Pan and Liang Liu |
ORCID |
|
Funding Agency and Grant Number |
|
Corresponding Author |
Xue-Xia Li, MD, Doctor, Doctor, Department of Nephrology, Zhuhai Hospital of Integrated Chinese and Western Medicine, No. 208 Yuehua Road, Gongbei, Xiangzhou District, Zhuhai 519000, Guangdong Province, China. sitalisa@163.com |
Key Words |
Electron transfer flavoprotein dehydrogenase mutation; Multiple acyl-CoA dehydrogenase deficiency; Multiple organ failure; Case report |
Core Tip |
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a disease of rare autosomal recessive disorder of fatty acid, amino acid, and choline metabolism. Here, we report a severe case of a young man with onset type III MADD characterized by rhabdomyolysis and liver dysfunction. His urinary and serum analysis indicated organic acids, the elevation of several acylcarnitines and the reduction of carnitne. Eventually, we identified a rare compound heterozygous variant in the patient. Unfortunately, the patient was not responsive to riboflavin and progressively worsening into multiple organ failure that finally led to death. |
Publish Date |
2024-07-05 10:19 |
Citation |
<p>Li XX, Yang XN, Pan HD, Liu L. Fatal multiple acyl-CoA dehydrogenase deficiency caused by ETFDH gene mutation: A case report. <i>World J Clin Cases</i> 2024; 12(23): 5422-5430</p> |
URL |
https://www.wjgnet.com/2307-8960/full/v12/i23/5422.htm |
DOI |
https://dx.doi.org/10.12998/wjcc.v12.i23.5422 |
© 2004-2025 Baishideng Publishing Group Inc. All rights reserved. 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
California Corporate Number: 3537345