BPG is committed to discovery and dissemination of knowledge
Articles Published Processes
7/22/2022 7:03:59 AM | Browse: 162 | Download: 552
Publication Name World Journal of Clinical Cases
Manuscript ID 74946
Country China
Received
2022-01-12 04:36
Peer-Review Started
2022-01-12 04:38
To Make the First Decision
Return for Revision
2022-05-11 09:02
Revised
2022-05-19 07:31
Second Decision
2022-07-01 03:09
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief
2022-07-06 03:39
Articles in Press
2022-07-06 03:39
Publication Fee Transferred
Edit the Manuscript by Language Editor
2022-06-22 02:28
Typeset the Manuscript
2022-07-08 08:32
Publish the Manuscript Online
2022-07-22 07:03
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: https://creativecommons.org/Licenses/by-nc/4.0/
Copyright © The Author(s) 2022. 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 Neurosciences
Manuscript Type Case Report
Article Title Clinical and genetic analysis of nonketotic hyperglycinemia: A case report
Manuscript Source Unsolicited Manuscript
All Author List Jun-Jie Ning, Feng Li and Sheng-Qiu Li
ORCID
Author(s) ORCID Number
Jun-Jie Ning http://orcid.org/0000-0002-8555-5480
Feng Li http://orcid.org/0000-0002-7611-3322
Sheng-Qiu Li http://orcid.org/0000-0001-5333-9276
Funding Agency and Grant Number
Corresponding Author Jun-Jie Ning, MD, Attending Doctor, Department of Pediatric Intensive Care Unit, First People's Hospital of Zigong City, No. 42 Shangyi Haozhi Road, Zigong 643000, Sichuan Province, China. 196425984@qq.com
Key Words Nonketotic hyperglycinemia; Compound heterozygosity; GLDC gene; Case report
Core Tip Herein, we present the case of a child who had typical clinical manifestations of nonketotic hyperglycinemia (NKH), such as hiccups, disturbance of consciousness, hypotonia and convulsions within the first week after birth. These symptoms combined with the results of gene testing led to a diagnosis of classical nonketotic hyperglycinemia caused by compound heterozygous variants in the GLDC gene. Plasma glycine levels cannot be used to evaluate the prognosis of NKH, and the corpus callosum can be affected by NKH. A ketogenic diet may be effective for seizure control in NKH patients.
Publish Date 2022-07-22 07:03
Citation Ning JJ, Li F, Li SQ. Clinical and genetic analysis of nonketotic hyperglycinemia: A case report. World J Clin Cases 2022; 10(22): 7982-7988
URL https://www.wjgnet.com/2307-8960/full/v10/i22/7982.htm
DOI https://dx.doi.org/10.12998/wjcc.v10.i22.7982
Full Article (PDF) WJCC-10-7982.pdf
Full Article (Word) WJCC-10-7982.docx
Manuscript File 74946_Auto_Edited-JRF-Wang TQ-LS.docx
Answering Reviewers 74946-Answering reviewers.pdf
Audio Core Tip 74946-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 74946-Conflict-of-interest statement.pdf
Copyright License Agreement 74946-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s) 74946-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 74946-Language certificate.pdf
Video 74946-Video.mp4
Peer-review Report 74946-Peer-review(s).pdf
Scientific Misconduct Check 74946-Bing-Fan JR-2.png
Scientific Editor Work List 74946-Scientific editor work list.pdf
CrossCheck Report 74946-CrossCheck report.pdf
CrossCheck Report 74946-CrossCheck.png