Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequenci
- PDF / 1,229,560 Bytes
- 13 Pages / 595.276 x 790.866 pts Page_size
- 57 Downloads / 170 Views
Open Access
REVIEW
Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature Zahra Beyzaei1 , Bita Geramizadeh1,2* and Sara Karimzadeh3
Abstract Background: Glycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. Currently, the main diagnostic methods such as tissue diagnosis, either histopathology or enzyme assay, are invasive. Meanwhile, GSDs are diseases with significant genetic heterogeneity, and gene-sequencing methods can be more useful. This systematic review aims to review the literature to assess the value of massively parallel sequencing in the diagnosis of GSDs on patients with previously undiagnosed hepatic involvement. Methods: Relevant studies identified in the MEDLINE/PubMed, EMBASE, Cochrane Library, Scopus, and Web of Science Core Collection databases up to July 2019 with no time and language restrictions. Publications were included in the review if they analyzed GSDs with hepatic involvement (GSD I, GSD III, GSD IV, GSD VI, GSD IX), using targeted gene sequencing (TGS) or exome sequencing (ES). Results: Eleven studies were included in this systematic review. ES demonstrated a 93% diagnostic yield. These methods correctly distinguished all types of pathogenic variants. The diagnostic yield of the TGS method was around 79.7%. Conclusions: According to our results, TGS analysis can be considered as the first-line diagnostic method with valuable results and ES can be used to diagnose complex cases of GSD with liver involvement. Overall, these molecular methods are considered as accurate diagnostic tools, which expedite correct diagnosis and treatment with significant cost-effectiveness by reducing unnecessary and inaccurate tests. PROSPERO registration: CRD42020139931. Registered 8 January 2020. Keywords: Glycogen storage disease (GSD), Massively parallel sequencing, Exome sequencing, Targeted gene sequencing, Rare disease diagnosis, Genetic diagnosis Background Glycogen storage disorders (GSDs) are a group of rare metabolic diseases with abnormal glycogen metabolism. The incidence of GSD is approximately 1:10,000 live *Correspondence: [email protected] 1 Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, Iran Full list of author information is available at the end of the article
births. These groups of diseases are caused by various enzyme deficiencies resulting in abnormal glycogen synthesis, or glycolysis, typically within the muscles and/or liver cells [1, 2]. Different types of GSDs are categorized based on the type of deficient enzymes and affected tissues [3]. GSDs with liver involvement (Hepatic GSDs) are a complex group of disorders, including GSD Ia (G6PC, MIM # 232200), Ib (SLC37A4, MIM # 232220), III
© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or
Data Loading...
