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:: Volume 15, Issue 10 (Basic Science Issue - October 2013) ::
ZJRMS 2013, 15(10): 7-11 Back to browse issues page
Genetic and Glycogen Storage Diseases
Sara Gholami , Ariane Sadr-Nabavi
, sadr.nabavi@gmail.com
Abstract:   (3626 Views)
Glycogen storage diseases are a group of inborn error of metabolism and characterized by accumulation of glycogen in various tissues. The overall incidence of glycogen storage diseases is estimated 1 per 20,000-43,000 live births. There are twelve distinct diseases that are commonly considered to be glycogen storage diseases and classified based on enzyme deficiency and affected tissue.
We searched all review articles and books in the national and international databases which considered as inherited metabolic disorders and the genetic associations of these disorders.  
A large number of enzymes intervene in the synthesis and degradation of glycogen which is regulated by hormones. Several hormones, including insulin, glucagon and cortisol regulate the relationship between glycolysis, glycogenosis, and glycogen synthesis.
These diseases are divided into three major groups: disorders that affected liver, disorders that affected muscle and those which are generalized. Glycogen storage diseases are called by a Roman numerical that reflects the historical sequence of their discovery by an enzyme defect or by the author's name of the first description.
Keywords: Genetic, Glycogen storage disease, Enzyme for Glycogen storage
Full-Text [PDF 261 kb]   (1710 Downloads)    
Type of Study: Review Article | Subject: Genetics and Molecular Biology
* Corresponding Author Address: Department of Human Genetics, Mashhad University of Medical Sciences, Mashhad, Iran
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Gholami S, Sadr-Nabavi A. Genetic and Glycogen Storage Diseases. ZJRMS. 2013; 15 (10) :7-11
URL: http://zjrms.ir/article-1-2268-en.html


Volume 15, Issue 10 (Basic Science Issue - October 2013) Back to browse issues page
Zahedan Journal of Research in Medical Sciences
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