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Volume 14, Issue 2 (April 2026)
J. Pediatr. Rev 2026, 14(2): 111-144 |
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Alian F, Bagheri N, Fayyazpour P, Torki Z, Hashemipour M, Salehi M, et al . Frequency of G6PC1 and SLC37A4 Genetic Variants in Asian Patients With Glycogen Storage Disease Type I: A Systematic Review. J. Pediatr. Rev 2026; 14 (2) :111-144
URL: http://jpr.mazums.ac.ir/article-1-786-en.html
URL: http://jpr.mazums.ac.ir/article-1-786-en.html
Fatemeh Alian1 
, Nastaran Bagheri2 , Parisa Fayyazpour3 , Zahra Torki4 , Mahin Hashemipour5 , Mansoor Salehi2 , Saeideh Abdolahpour6 , Tayebeh Ranjbarnejad7 , Silva Hovsepian *8 , Noushin Rostampour5
, Nastaran Bagheri2 , Parisa Fayyazpour3 , Zahra Torki4 , Mahin Hashemipour5 , Mansoor Salehi2 , Saeideh Abdolahpour6 , Tayebeh Ranjbarnejad7 , Silva Hovsepian *8 , Noushin Rostampour5
1- Department of Biochemistry, Institute of Biochemistry and Biophysics, University of Tehran, Tehran, Iran. & Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
2- Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
3- Department of Clinical Biochemistry, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran. & Student Research Committee, Hamadan University of Medical Sciences, Hamadan, Iran.
4- Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
5- Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
6- Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
7- Medical Biology Research Center, Health Technology Institute, Kermanshah University of Medical Sciences, Kermanshah, Iran.
8- Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran. ,silvahovsepsecret@gmail.com
2- Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
3- Department of Clinical Biochemistry, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran. & Student Research Committee, Hamadan University of Medical Sciences, Hamadan, Iran.
4- Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
5- Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
6- Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
7- Medical Biology Research Center, Health Technology Institute, Kermanshah University of Medical Sciences, Kermanshah, Iran.
8- Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran. ,
Abstract: (6 Views)
Background: Glycogen storage disease type I (GSD I), or Von Gierke disease, is a rare autosomal recessive disorder caused by mutations in the G6PC1 (GSD Ia) or SLC37A4 (GSD Ib) genes. Early genetic diagnosis is essential to prevent complications.
Objectives: This study aimed to systematically review reported G6PC1 and SLC37A4 variants in Asian patients and to identify region-specific mutation patterns.
Methods: A systematic search of Web of Science, PubMed, Embase, Scopus, ProQuest, and Google Scholar was performed through June 4, 2023, using appropriate MeSH terms and keywords. Eligible studies included cross-sectional studies, cohorts, case reports/series, and case-control designs that reported the type and frequency of pathogenic or likely pathogenic G6PC1 or SLC37A4 variants in Asian patients with GSD I. Two reviewers independently extracted data, with discrepancies resolved by a third reviewer. Variant pathogenicity was assessed using the American College of Medical Genetics and Genomics (ACMG) criteria and cross-validated with ClinVar and HGMD. Regional variant frequencies were summarized using descriptive methods.
Results: Seventy studies from 14 Asian countries, comprising 680 patients, were included. Distinct regional mutation patterns were identified. In East Asia, the G6PC1 c.648G>T and SLC37A4 c.572C>T/c.521C>T variants predominated. In West Asia, G6PC1 c.247C>T and SLC37A4 c.1042_1043delCT were most frequent. In South Asia, G6PC1 c.648G>T/c.150_151delGT and SLC37A4 c.796_797del/c.898C>T were common. These patterns highlight both shared and region-specific variants.
Conclusions: The study reveals diverse, region-specific G6PC1 and SLC37A4 mutations in Asian patients with GSD I, supporting targeted genetic screening and personalized diagnostics.
Objectives: This study aimed to systematically review reported G6PC1 and SLC37A4 variants in Asian patients and to identify region-specific mutation patterns.
Methods: A systematic search of Web of Science, PubMed, Embase, Scopus, ProQuest, and Google Scholar was performed through June 4, 2023, using appropriate MeSH terms and keywords. Eligible studies included cross-sectional studies, cohorts, case reports/series, and case-control designs that reported the type and frequency of pathogenic or likely pathogenic G6PC1 or SLC37A4 variants in Asian patients with GSD I. Two reviewers independently extracted data, with discrepancies resolved by a third reviewer. Variant pathogenicity was assessed using the American College of Medical Genetics and Genomics (ACMG) criteria and cross-validated with ClinVar and HGMD. Regional variant frequencies were summarized using descriptive methods.
Results: Seventy studies from 14 Asian countries, comprising 680 patients, were included. Distinct regional mutation patterns were identified. In East Asia, the G6PC1 c.648G>T and SLC37A4 c.572C>T/c.521C>T variants predominated. In West Asia, G6PC1 c.247C>T and SLC37A4 c.1042_1043delCT were most frequent. In South Asia, G6PC1 c.648G>T/c.150_151delGT and SLC37A4 c.796_797del/c.898C>T were common. These patterns highlight both shared and region-specific variants.
Conclusions: The study reveals diverse, region-specific G6PC1 and SLC37A4 mutations in Asian patients with GSD I, supporting targeted genetic screening and personalized diagnostics.
Keywords: Glycogen storage disease type I (GSD I), Von Gierke disease, G6PC1, SLC37A4, Genetic variation, Asian populations, Systematic review
Type of Study: Systematic Review |
Subject:
Genetics
Received: 2025/08/13 | Accepted: 2026/02/10 | Published: 2026/04/12
Received: 2025/08/13 | Accepted: 2026/02/10 | Published: 2026/04/12
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