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7/5/2024 10:19:29 AM | Browse: 61 | Download: 275
Publication Name World Journal of Clinical Cases
Manuscript ID 95491
Country China
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
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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
Author(s) ORCID Number
Xue-Xia Li http://orcid.org/0000-0001-9827-5093
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
Full Article (PDF) WJCC-12-5422-with-cover.pdf
CARE Checklist–2016 95491-CARE-Checklist-2016.pdf
Manuscript File 95491-Review-FilipodiaCL.docx
Answering Reviewers 95491-answering-reviewers.pdf
Audio Core Tip 95491-audio.m4a
Conflict-of-Interest Disclosure Form 95491-conflict-of-interest-statement.pdf
Copyright License Agreement 95491-copyright-assignment.pdf
Signed Consent for Treatment Form(s) or Document(s) 95491-informed-consent-statement.pdf
Non-Native Speakers of English Editing Certificate 95491-non-native-speakers.pdf
Peer-review Report 95491-peer-reviews.pdf
Scientific Misconduct Check 95491-scientific-misconduct-check.png
Scientific Editor Work List 95491-scientific-editor-work-list.pdf
CrossCheck Report 95491-crosscheck-report.pdf