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11/21/2020 6:15:25 AM | Browse: 39 | Download: 14
Publication Name World Journal of Clinical Cases
Manuscript ID 58935
Country/Territory China
Category Pediatrics
Manuscript Type Case Report
Article Title Neonatal isovaleric acidemia in China: A case report and review of literature
Manuscript Source Unsolicited Manuscript
All Author List Fang Wu, Shu-Juan Fan and Xi-Hui Zhou
Funding Agency and Grant Number
Corresponding author Xi-Hui Zhou, MD, Chief Physician, Full Professor, Department of Neonatalogy, The First Affiliated Hospital of Xi'an Jiaotong University, No. 277 Yanta West Road, Xi'an 710061, Shaanxi Province, China. zhouxihuixian@163.com
Key Words Isovaleric acidemia; Isovaleryl-CoA dehydrogenase; Sweaty feet odor; Case report; Mental retardation; Literature review
Core Tip Isovaleric acidemia (IVA) is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase (IVD), with a high mortality. We describe a 12-day-old male neonate diagnosed with IVD by tandem mass spectrometry and gas chromatography mass spectrometry. Organic acid analysis of blood and urine showed extremely high concentrations of isovaleryl glycine. DNA sequencing of the IVD gene in the family revealed c.1193G>A mutation inherited from his mother and c.1208A>G mutation inherited from his father. Furthermore, the clinical characteristics and prognosis are discussed in combination with reported cases over the past 14 years.
Citation Wu F, Fan SJ, Zhou XH. Neonatal isovaleric acidemia in China: A case report and review of literature. World J Clin Cases 2020; In press
Received
2020-08-25 16:10
Peer-Review Started
2020-08-25 16:10
To Make the First Decision
Return for Revision
2020-10-27 05:20
Revised
2020-11-07 14:03
Second Decision
2020-11-16 11:27
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2020-11-21 06:15
Articles in Press
2020-11-21 06:15
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
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) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Assistant Editor Assistant Editor
Science Editor Chen-Chen Gao
Reviewer Code 00503623
Editorial Director
Journal Chief Editor
Company Chief Editor Lian-Sheng Ma
Language Editor
Production Editor
Responsible Production Editor
Responsible Science Editor
Proofing Editorial Director Jin-Lei Wang
Proofing Editor-in-Chief Lian-Sheng Ma
Manuscript File 58935_Auto_Edited.docx
Answering Reviewers 58935-Answering reviewers.pdf
Audio Core Tip 58935-Audio core tip.wav
Conflict-of-Interest Disclosure Form 58935-Conflict-of-interest statement.pdf
Copyright License Agreement 58935-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 58935-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 58935-Language certificate.pdf
Peer-review Report 58935-Peer-review(s).pdf
Scientific Misconduct Check 58935-Bing-Gao CC-1.jpg
Scientific Misconduct Check 58935-Scientific misconduct check.pdf
Scientific Editor Work List 58935-Scientific editor work list.pdf