Frequency of G6PC1 and SLC37A4 Genetic Variants in Asian Patients With Glycogen Storage Disease Type I: A Systematic Review.
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...
| Publicado en: | Journal of Pediatrics Review Vol. 14; no. 2; pp. 111 - 145 |
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| Autores principales: | , , , , , , , , , |
| Formato: | research systematic review tables/charts Journal Article |
| Publicado: |
Mazandaran University of Medical Sciences
Apr2026
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=195157042&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 195157042 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 23224398 HC3Y jtl: Journal of Pediatrics Review issn: 23224398 maglogo: N pubinfo: dt: Apr2026 vid: 14 iid: 2 pid: 45683 pub: Mazandaran University of Medical Sciences artinfo: ui: 195157042 195157042 195157042 10.32598/jpr.14.2.512.6 195157042 ppf: 111 ppct: 34 formats: fmt: @attributes: type: P tig: atl: Frequency of G6PC1 and SLC37A4 Genetic Variants in Asian Patients With Glycogen Storage Disease Type I: A Systematic Review. aug: au: Alian, Fatemeh Bagheri, Nastaran Fayyazpour, Parisa Torki, Zahra Hashemipour, Mahin Salehi, Mansoor Abdolahpour, Saeideh Ranjbarnejad, Tayebeh Hovsepian, Silva Rostampour, Noushin affil: Department of Biochemistry, Institute of Biochemistry and Biophysics, University of Tehran, Tehran, Iran sug: subj: Glycogen Storage Disease Familial and Genetic Genetic Variation Mutation Genetics Human Asians Asia Systematic Review PubMed Medline Embase Gray Literature Descriptive Statistics Data Analysis Software Genotype Molecular Diagnostic Techniques Genetic Screening Funding Source ab: 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. pubtype: Academic Journal doctype: research systematic review tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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