Glycogen Storage Disease Essay -- Disease, Disorders

Introductionglycogen terminus disease is the result of a soil in the synthesis or breakdown of glycogen that is found in muscles, the colored and many other cell figures. This disease may be genetic or acquired and is usually caused by a defect in certain enzymes that be important in the metabolism of glycogen. To date, there are 11 different classifications for glycogen storage disease but this reputation will focus on glycogen storage disease grammatical case 1 (GSD I), also known as von Gierkes disease, after the German doctor who discovered it. GSD I is an inherited autosomal recessive overthrow 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 sister that is affected by GSD I. Prenatal diagnosis can be do by completing a liver biopsy at 18-22 weeks but no fetal treatments are currently available and standard saucyborn concealment tests are not able to detect GSD I.Backgr ound and epidemiologyGSD 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 ii 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), Harrisons Principles o f Internal Medicine, 18e. Retrieved January 21, 2012 from http//www.accessmedicine.com/content.aspx? helper=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 pedology 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.