Genetic and Glycogen Storage Diseases

AUTHORS

Sara Gholami 1 , Ariane Sadr-Nabavi 1 , *

AUTHORS INFORMATION

1 Department of Human Genetics, Mashhad University of Medical Sciences, Mashhad, Iran

ARTICLE INFORMATION

Zahedan Journal of Research in Medical Sciences: 15 (10); e92815
Published Online: July 12, 2013
Article Type: Review Article
Received: April 29, 2012
Revised: May 02, 2019
Accepted: July 01, 2012

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Abstract

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

© 2013, Zahedan Journal of Research in Medical Sciences. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
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