Glycogen Storage Disease Essay -- Disease, Disorders

Introduction: Glycogen storage disease is the result of a defect in the synthesis or breakdown of glycogen that is found in muscles, the liver and many other cell types. This disease may be genetic or acquired and is usually caused by a defect in certain enzymes that are important in the metabolism of glycogen. To date, there are 11 different classifications for glycogen storage disease but this paper will focus on glycogen storage disease type 1 (GSD I), also known as von Gierke’s disease, after the German doctor who discovered it. GSD I is an inherited autosomal recessive disorder with the incidence being 1 in 100,000. Parents may be heterozygote carriers, making them asymptomatic, however they have a 25% chance of having a child that is affected by GSD I. Prenatal diagnosis can be made by completing a liver biopsy at 18-22 weeks but no fetal treatments are currently available and standard newborn screening tests are not able to detect GSD I. Background and epidemiology: GSD I is a genetic disease resulting from the deficiency of the enzyme glucose-6-phosphate (G-6-P) and glucose-6-phosphate translocase (Andria et al). These particular enzymes are important in enabling the liver to produce glucose from glycogen and/or generate new glucose via gluconeogenesis. The inability of the liver to produce glucose from these metabolic pathways can result in severe hypoglycemia since the liver is responsible for maintaining blood glucose for the body in periods of fasting. The reduction of glycogen breakdown can also cause the kidneys and liver to become enlarged because excess glycogen is typically stored within these two organs. The liver and kidneys can typically function normally during childhood, however because of the increas... ...apter 362. Glycogen Storage Diseases and Other Inherited Disorders of Carbohydrate Metabolism. In D.L. Longo, A.S. Fauci, D.L. Kasper, S.L. Hauser, J.L. Jameson, J. Loscalzo (Eds), Harrison's Principles of Internal Medicine, 18e. Retrieved January 21, 2012 from http://www.accessmedicine.com/content.aspx?aID=9144477. Medscape, Glycogen Storage Diseases Types I-VII. Retrieved at http://emedicine.medscape.com/article/1116574-overview. Moses, S.W. Historical higlights and unsolved problems in glycogen storage disease type 1. European Journal of Pediatrics 2002, 161: S2-S9. Nazir, Z. and Qazi, S.H. Urolithiasis and psoas abscess in a 2 year old boy with type 1 glycogen storage disease. Pedriatric Nephrology 2006, 21: 1772-1775. Wikipedia, the free encyclopedia. Glycogen storage disease type I. Retrieved at http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I.