| ISSN |
2219-2808 (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) 2024. 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 |
Gastroenterology & Hepatology |
| Manuscript Type |
Retrospective Study |
| Article Title |
Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand
|
| Manuscript Source |
Invited Manuscript |
| All Author List |
Jaravee Vanduangden, Rungnapa Ittiwut, Chupong Ittiwut, Teerasak Phewplung, Anapat Sanpavat, Palittiya Sintusek and Kanya Suphapeetiporn |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Ratchadaphiseksomphot Fund, Graduate Affairs, Faculty of Medicine, Chulalongkorn University |
GA66/020 |
| Ratchadaphiseksomphot Fund, Chulalongkorn University |
RCU_H_64_007_30 |
|
| Corresponding Author |
Palittiya Sintusek, MD, PhD, Associate Professor, Center of Excellence in Thai Pediatric Gastroenterology, Hepatology and Immunology, Division of Gastroenterology, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Chulalongkorn University, 1873 Rama IV, Pathumwan, Bangkok 10330, Thailand. palittiya.s@chula.ac.th |
| Key Words |
Storage disease; Hypoglycemia; Pediatric; Whole exome sequencing; Novel variants; Thailand |
| Core Tip |
Hepatic glycogen storage diseases (GSDs) are rare but treatable conditions. While liver histopathology is helpful for diagnosis, it cannot differentiate between GSD subtypes. Data on long-term outcomes with extensive nutritional management are limited. This study evaluates the clinical and biochemical profiles, molecular analysis, and long-term outcomes of Thai children with hepatic GSDs, identifying two novel causative variants. The findings indicate that extensive nutritional management, including frequent uncooked cornstarch supplementation, a high-protein diet, and a low lactose-fructose diet, yields favorable outcomes across GSD subtypes. However, tailored management, particularly for GSD types III and VI, can further enhance quality of life and minimize complications. |
| Publish Date |
2024-10-30 10:50 |
| Citation |
<p>Vanduangden J, Ittiwut R, Ittiwut C, Phewplung T, Sanpavat A, Sintusek P, Suphapeetiporn K. Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand. <i>World J Clin Pediatr</i> 2024; 13(4): 100493</p> |
| URL |
https://www.wjgnet.com/2219-2808/full/v13/i4/100493.htm |
| DOI |
https://dx.doi.org/10.5409/wjcp.v13.i4.100493 |
