en ژنتیک Genetics Systematic Review Systematic Review <strong>Background</strong>: 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.<br> <strong>Objectives</strong>: This study aimed to systematically review reported G6PC1 and SLC37A4 variants in Asian patients and to identify region-specific mutation patterns.&nbsp;<br> <strong>Methods</strong>: 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.<br> <strong>Results</strong>: 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.<br> <strong>Conclusions</strong>: The study reveals diverse, region-specific G6PC1 and SLC37A4 mutations in Asian patients with GSD I, supporting targeted genetic screening and personalized diagnostics. Glycogen storage disease type I (GSD I), Von Gierke disease, G6PC1, SLC37A4, Genetic variation, Asian populations, Systematic review 111 144 http://jpr.mazums.ac.ir/browse.php?a_code=A-10-512-6&slc_lang=en&sid=1 Fatemeh Alian alian.fatemeh97@ut.ac.ir 100319475328460013745 100319475328460013745 No Department of Biochemistry, Institute of Biochemistry and Biophysics, University of Tehran, Tehran, Iran. Nastaran Bagheri nastaran_bgh@yahoo.com 100319475328460013746 0009-0008-1100-1160 No Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran. Parisa Fayyazpour fayyazpourparisa@gmail.com 100319475328460013747 100319475328460013747 No Department of Clinical Biochemistry, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran. Zahra Torki zahratorki94@gmail.com 100319475328460013748 100319475328460013748 No Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran. Mahin Hashemipour mahin.hashemipour@gmail.com 100319475328460013749 100319475328460013749 No Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran. Mansoor Salehi m.salehii@med.mui.ac.ir 100319475328460013750 100319475328460013750 No Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran. Saeideh Abdolahpour abdolahpours@yahoo.com 100319475328460013751 100319475328460013751 No Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran. Tayebeh Ranjbarnejad tayebeh.ranjbar1992@gmail.com 100319475328460013752 100319475328460013752 No Medical Biology Research Center, Health Technology Institute, Kermanshah University of Medical Sciences, Kermanshah, Iran. Silva Hovsepian silvahovsepsecret@gmail.com 100319475328460013753 100319475328460013753 Yes Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran. Noushin Rostampour rostampour_n@yahoo.com 100319475328460013754 100319475328460013754 No Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.