Copyright
©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 6, 2022; 10(22): 7982-7988
Published online Aug 6, 2022. doi: 10.12998/wjcc.v10.i22.7982
Published online Aug 6, 2022. doi: 10.12998/wjcc.v10.i22.7982
Clinical and genetic analysis of nonketotic hyperglycinemia: A case report
Jun-Jie Ning, Feng Li, Sheng-Qiu Li, Department of Pediatric Intensive Care Unit, First People's Hospital of Zigong City, Zigong 643000, Sichuan Province, China
Author contributions: Ning JJ and Li F were the patient’s doctors; Ning JJ reviewed the literature, contributed to drafting the manuscript, and provided plans for the treatment; Li SQ was the nurse in charge of the child.
Informed consent statement: The patient’s parents provided informed written consent for the publication of this case report.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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/
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
Received: January 12, 2022
Peer-review started: January 12, 2022
First decision: May 11, 2022
Revised: May 19, 2022
Accepted: July 5, 2022
Article in press: July 5, 2022
Published online: August 6, 2022
Peer-review started: January 12, 2022
First decision: May 11, 2022
Revised: May 19, 2022
Accepted: July 5, 2022
Article in press: July 5, 2022
Published online: August 6, 2022
Core Tip
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.