Genetic and Glycogen Storage Diseases

Sara Gholami; Ariane  Sadr-Nabavi

Zahedan Journal of Research in Medical Sciences

The Official Journal of Zahedan University of Medical Sciences

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Genetic and Glycogen Storage Diseases

Author(s):

Sara Gholami¹,

Ariane Sadr-Nabavi^1,*

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

Zahedan Journal of Research in Medical Sciences:Vol. 15, issue 10; e92815

Published online:Jul 12, 2013

Article type:Review Article

Received:Apr 29, 2012

Accepted:Jul 01, 2012

How to Cite:Sara GholamiAriane Sadr-NabaviGenetic and Glycogen Storage Diseases.Zahedan J Res Med Sci.15(10):e92815.

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

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References

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