Hepatic glycogen storage disease: Deciphering the genotype-phenotype conundrum

doi:10.5409/wjcp.v14.i3.103415

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Sep 9, 2025 (publication date) through Jun 16, 2025

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World Journal of Clinical Pediatrics

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2219-2808

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Pediatr. Sep 9, 2025; 14(3): 103415
Published online Sep 9, 2025. doi: 10.5409/wjcp.v14.i3.103415

Hepatic glycogen storage disease: Deciphering the genotype-phenotype conundrum

Arghya Samanta, Gautam Ray

Arghya Samanta, Department of Pediatric Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, Uttar Pradesh, India

Gautam Ray, Department of Pediatric Gastroenterology, Institute of Postgraduate Medical and Research, Kolkata 700020, West Bengal, India

Author contributions: Samanta A designed the overall concept and outline of the manuscript, performed the literature review and critical revision of the manuscript; Ray G performed the literature review, wrote the initial manuscript draft, contributed to the editing of the manuscript; all authors have read and approved the final manuscript.

Conflict-of-interest statement: The authors declare no conflict of interest.

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: Arghya Samanta, Assistant Professor, Department of Pediatric Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, Uttar Pradesh, India. arghyasamanta29051989@gmail.com

Received: November 20, 2024
Revised: March 8, 2025
Accepted: March 17, 2025
Published online: September 9, 2025
Processing time: 209 Days and 2 Hours

Core Tip

Core Tip: Glycogen storage diseases (GSDs) are a group of clinically and genetically heterogeneous diseases. The various subtypes of hepatic GSDs are often clinically overlapping, especially in hepatic GSDs. Early diagnosis and proper dietary therapy are paramount for optimal clinical outcomes. Certain clinical features and laboratory derangements such as hypoglycemia, elevated liver enzymes and abnormal lipid profile are helpful in diagnosis. Liver biopsy is an invasive diagnostic test, which has recently been replaced by genetic testing. Next-generation sequencing is now being used more frequently for definitive diagnosis of GSD.