Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 26, 2022; 10(30): 11082-11089
Published online Oct 26, 2022. doi: 10.12998/wjcc.v10.i30.11082
Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report
Xing-Chen Wang, Ting Wang, Rui-Han Liu, Yan Jiang, Dan-Dan Chen, Xin-Yu Wang, Qing-Xia Kong
Xing-Chen Wang, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong Province, China
Ting Wang, Qing-Xia Kong, Department of Neurology, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong Province, China
Rui-Han Liu, Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining 272000, China
Rui-Han Liu, College of TCM, Shandong University of Traditional Chinese Medicine, Jinan 250012, Shandong Province, China
Yan Jiang, Dan-Dan Chen, Xin-Yu Wang, Clinical Medical College, Jining Medical University, Jining 272000, Shandong Province, China
Author contributions: Wang XC, Liu RH, and Kong QX designed the study; Chen DD, Jiang Y, Wang XY, and Wang T collected the data; Wang XC, Wang T, and Liu RH contributed to data analysis and interpretation; Wang XC drafted the manuscript; Kong QX and Liu RH contributed to revisions; all authors approved the final version of the manuscript.
Supported by the Natural Science Foundation of Shandong Province, No. ZR2019MH060.
Informed consent statement: Informed written consent was obtained from the patients for the publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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: Qing-Xia Kong, PhD, Chief Physician, Doctor, Department of Neurology, Affiliated Hospital of Jining Medical University, No. 89 Guhuai Road, Jining 272000, Shandong Province, China. kxdqy8@sohu.com
Received: May 29, 2022
Peer-review started: May 29, 2022
First decision: June 27, 2022
Revised: July 8, 2022
Accepted: September 14, 2022
Article in press: September 14, 2022
Published online: October 26, 2022
Core Tip

Core Tip: A child presented with comprehensive developmental delay and epilepsy. Whole-exon sequencing revealed the presence of a novel complex heterozygous mutation in the adenylosuccinate lyase (ADSL) gene. Bioinformatics analysis suggested that the mutation caused ADSL deficiency.