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Articles Published Processes
7/22/2022 7:03:59 AM | Browse: 162 | Download: 552
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Received |
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2022-01-12 04:36 |
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Peer-Review Started |
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2022-01-12 04:38 |
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To Make the First Decision |
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Return for Revision |
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2022-05-11 09:02 |
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Revised |
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2022-05-19 07:31 |
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Second Decision |
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2022-07-01 03:09 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2022-07-06 03:39 |
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Articles in Press |
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2022-07-06 03:39 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2022-06-22 02:28 |
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Typeset the Manuscript |
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2022-07-08 08:32 |
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Publish the Manuscript Online |
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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
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Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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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 |
Neurosciences |
Manuscript Type |
Case Report |
Article Title |
Clinical and genetic analysis of nonketotic hyperglycinemia: A case report
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Jun-Jie Ning, Feng Li and Sheng-Qiu Li |
ORCID |
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Funding Agency and Grant Number |
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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 |
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