Glycogen Storage Disease Essay -- Disease, Disorders

IntroductionGlycogen storehouse malady is the result of a defect in the synthesis or partition of glycogen that is found in muscles, the colored and many other(a) cell types. This disease may be genetic or acquired and is normally caused by a defect in certain enzymes that are eventful in the metabolism of glycogen. To date, there are 11 different classifications for glycogen terminal disease but this paper will focus on glycogen storage disease type 1 (GSD I), also cognise as von Gierkes 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 shortly avail competent and standard newborn screening tests are not able to detect GSD I.Background and epi demiologyGSD I is a genetic disease resulting from the insufficiency 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 bring up glucose from glycogen and/or generate new glucose via gluconeogenesis. The inability of the liver to bring 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 overmuch 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 inherit 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 of Int ernal 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.