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Topic: Glycogen storage disease

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	What is Glycogen Storage Disease? (Site not responding. Last check: 2007-10-09)
		Glycogen storage diseases are genetic deficiencies that result in the storage of abnormal amounts of glycogen in the body.
		About 1 out of 100,000 babies are born with glycogen storage diseases each year in Canada.
		All people who are born with GSD have one thing in common.
	www.vanhosp.bc.ca /html/wellness_amdc_findout_glycogen_whatis.html (231 words)

	Glycogen storage disease - Wikipedia, the free encyclopedia
		Glycogen storage disease is any one of several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
		GSD type III: glycogen debrancher deficiency, Cori's disease or Forbe's disease
		Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs because it is another defect of glycogen storage and can cause similar problems.
	en.wikipedia.org /wiki/Glycogen_storage_disease (184 words)

	AGSD - UK Site - Information (Site not responding. Last check: 2007-10-09)
		Persons affected by GSD have an inherited defect in one of the enzymes responsible for forming or releasing glycogen as it is needed by the body during exercise and/or between meals.
		There are about eleven known types of GSD which are classified by a number, by the name of the defective enzyme, or by the name of the doctor who first described the condition.
		Diagnosis of the type of GSD is made on the basis of an individual's symptoms, the results of a physical examination and of biochemical tests.
	www.agsd.org.uk /home/infomation.asp (252 words)

	TYPE I GLYCOGEN STORAGE DISEASE (Site not responding. Last check: 2007-10-09)
		Gastroenterology Consultants, PC Glycogen Storage Disease has been divided into at least 10 different types based on the deficiency of a particular enzyme which controls blood sugar levels.
		Type I Glycogen Storage Disease is a deficiency of the enzyme glucose -6 - phosphatase which helps in maintaining a normal blood glucose (sugar concentration) during fasting.
		A practical management technique for maintaining the blood glucose level has been devised in which a naso-gastric tube is inserted into the stomach each evening and through this tube is infused a solution containing a high concentration of glucose so the blood sugar level remains between 75 and 120.
	www.gastro.com /html/liverdisease/typei_glycogen.shtml (434 words)

	Glycogen Storage Disease Type V
		Genetic diseases are determined by the combination of genes for a particular trait which are on the chromosomes received from the father and the mother.
		Glycogen Storage Diseases are caused by inborn errors of metabolism in which the balance between stored energy (glycogen) and available energy (sugar or glucose) is disturbed.
		Pompe Disease is a hereditary glycogen storage disease.
	hw.healthdialog.com /kbase/nord/nord395.htm (1554 words)

	What Is Glycogen Storage Disease (GSD)? (Site not responding. Last check: 2007-10-09)
		The underlying problem in all of the glycogen storage diseases is the use and storage of glycogen.
		Persons affected by Glycogen Storage Disease (GSD) have an inherited absence or deficiency of any of the enzymes responsible for forming or releasing glycogen as it is needed by the body during exercise and/or between meals.
		Almost all forms of GSD occur when a child inherits the affected gene from both parents (autosomal recessive inheritance), each of who is a carrier but is not affected themselves.
	www.agsdus.org /html/whatisglycogenstoragedisease.html (372 words)

	Gale Encyclopedia of Medicine: Glycogen storage diseases (Site not responding. Last check: 2007-10-09)
		Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regulating glycogen metabolism.
		These enzymes are responsible for creating glycogen from glucose, transporting the glycogen to and from storage areas within cells, and extracting glucose from the glycogen as needed.
		GSD II is subdivided according to the age of onset.
	www.findarticles.com /p/articles/mi_g2601/is_0005/ai_2601000598 (1426 words)

	Glycogen Storage Disease
		Patients affected with GSD lack or are deficient in enzymes responsible for the conversion of glycogen into glucose.
		Glycogen is stored mainly in the liver and muscle cells and is converted into glucose through a series of enzymatic reactions as needed by the body.
		GSD is primarily inherited in an autosomal recessive pattern, but a few types have been linked to the X chromosome.
	www.tylermedicalclinic.com /glycogen_storage_disease.htm (438 words)

	Glycogen Storage Disease Type V (Site not responding. Last check: 2007-10-09)
		It is possible that the main title of the report Glycogen Storage Disease Type V is not the name you expected.
		Glycogen storage disease type V (McArdle Disease or GSD-V) is one of several inherited glycogen storage diseases all of which are caused by failures of specific enzymes required for the storage of energy-supplying glycogen.
		All of the glycogen storage diseases are characterized by the inability to break down glycogen, but in each case this occurs for a different reason.
	my.webmd.com /hw/raising_a_family/nord395.asp (477 words)

	Glycogen Storage Disease
		Glycogen storage disease has been divided into at least 10 different types based on the deficiency of a particular enzyme which controls blood sugar levels.
		Type I glycogen storage disease is a deficiency of the enzyme glucose-6-phosphatase which helps in maintaining a normal blood glucose (sugar concentration) during fasting.
		A practical management technique for maintaining the blood glucose level has been devised in which a naso-gastric tube is inserted into the stomach each evening through which a solution containing a high concentration of glucose is infused to maintain the blood sugar level between 75 and 120.
	www.liverkids.org.au /glycogen.htm (439 words)

	LMF: Glycogen Storage Disease in Norwegian Forest Cats
		Glycogen is the storage form of glucose in cats and other mammals.
		When a genetic disease occurs spontaneously in a family of cats, as in this case, it presents a unique opportunity to observe the disease and attempt therapeutic interventions that may later be applicable to human patients.
		For example, over the lifetime of a single infant with an inherited metabolic disease called phenylketonuria (check your cans of diet soda), which becomes severely mentally disabled due to lack of early diagnosis, costs to the health system are many times the cost of the neonatal screening program that is in place in most states.
	ourworld.compuserve.com /homepages/L_P_swepston/GSD.htm (1573 words)

	Chicago Center for Jewish Genetics Disorders - Sephardi Disorders: Glycogen Storage Disease, Type III
		Glycogen is one of the primary fuel reserves for the body's energy needs.
		In glycogen storage disease, type III (GSD III), liver and/or muscle are unable to completely break down the stored glycogen to glucose, which is needed for energy production.
		GSD III occurs in 1 in 5400 North-African Jews and in 1 in 200,000 in the general population.
	www.jewishgeneticscenter.org /what/sephardi/glycogen.asp (252 words)

	Home
		The information is intended to be of use to people affected by one of the glycogen storage diseases, their families, and other interested parties.
		Diagnosis of a rare genetic disease can be a very lonely experience for the patients and their families, and in some cases, for their doctors also.
		Some forms of GSD cause little in the way of illness, while others are life threatening.
	www.agsdus.org (177 words)

	eMedicine - Glycogen-Storage Disease Type I : Article by Karl S Roth, MD (Site not responding. Last check: 2007-10-09)
		GSD Ia and Ib are autosomal recessive genetic traits caused by mutations at loci 17q21 and 11q23, respectively.
		GSD Ia is caused by deficient activity of the enzyme glucose-6-phosphatase, representing at least 14 distinct allelic variants.
		GSD Ib is caused by deficiency of glucose-6-phosphate translocase, which is responsible for importing glucose-6-phosphate from the cytosol to the interior of the microsome, thus bringing substrate into contact with enzyme.
	www.emedicine.com /ped/topic2416.htm (3698 words)

	Glycogen storage diseases
		The key to managing GSD I is to maintain consistent levels of blood glucose through a combination of nocturnal intragastric feeding (usually for infants and children), frequent high-carbohydrate meals during the day, and regular oral doses of cornstarch (people over age 2).
		GSD V and GSD VII can also be managed with a high protein diet and by avoiding strenuous exercise.
		A macromolecule composed mainly of glucose that serves as the storage form of glucose that is not immediately needed by the body.
	www.healthatoz.com /healthatoz/Atoz/ency/glycogen_storage_diseases.jsp (2326 words)

	eMedicine - Glycogen Storage Disease, Type II : Article by Wayne E Anderson, DO (Site not responding. Last check: 2007-10-09)
		Acid maltase is a lysosomal enzyme that catalyzes the hydrogenation of branched glycogen compounds, notably maltose, to glucose.
		In 2000, Zingone and colleagues demonstrated the abolition of the murine clinical manifestations of Von Gierke disease with a recombinant adenoviral vector.
		Martiniuk F, Chen A, Mack A: Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease.
	www.emedicine.com /med/topic908.htm (2420 words)

	eMedicine - Glycogen-Storage Disease Type 0 : Article by Lynne Ierardi-Curto, MD, PhD (Site not responding. Last check: 2007-10-09)
		Glycogen synthetase is the rate-limiting enzyme for glycogen synthesis in the liver, and it catalyzes the synthesis of glycogen by transferring glucose units from UDP-glucose to a glycogen primer.
		Mutations in the gene for liver glycogen synthetase result in decreased or absent activity of liver glycogen synthetase and decreased amounts of structurally normal glycogen in the liver.
		Bachrach BE, Weinstein DA, Orho-Melander M, et al: Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.
	www.emedicine.com /ped/topic873.htm (1592 words)

	Glycogen storage disease -- Facts, Info, and Encyclopedia article (Site not responding. Last check: 2007-10-09)
		GSD type I: glucose-6-phosphatase deficiency, (Click link for more info and facts about von Gierke's disease) von Gierke's disease
		GSD type IV: (Click link for more info and facts about glycogen branching enzyme deficiency) glycogen branching enzyme deficiency, (Click link for more info and facts about Andersen disease) Andersen disease
		GSD type V: muscle glycogen phosphorylase deficiency, (Click link for more info and facts about McArdle disease) McArdle disease
	www.absoluteastronomy.com /encyclopedia/g/gl/glycogen_storage_disease.htm (144 words)

	Pompe's disease - a guide for families (Site not responding. Last check: 2007-10-09)
		This document is an attempt to present the current (at the time of writing) research into the cause and treatment of Pompe's disease, supplementing the 'blue book' on glycogen storage diseases produced by the AGSD in the USA.
		This means that in Pompe's disease, where there is no enzyme to break down the glycogen in the lysosomes, that the lysosomes in the heart and skeletal muscle quickly accumulate large deposits of glycogen.
		If the disease is caused by a faulty gene and gene therapy has not yet progressed to the extent where the gene can be replaced, then the next best thing is to replace the faulty enzyme produced by the gene.
	www.pompe.org.uk /agsdpom.html (5232 words)

	Determination of Acid {alpha}-Glucosidase Protein: Evaluation as a Screening Marker for Pompe Disease and Other ...
		of the disease is not apparent at birth and manifests in the
		Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease.
		Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.
	www.clinchem.org /cgi/content/full/46/9/1318 (4137 words)

	Type VII: Tarui (Site not responding. Last check: 2007-10-09)
		Patients with this type of GSD have a deficient amount of this enzyme in their muscle tissue.
		With this deficiency, effective glycogen breakdown (glycolysis) during muscle stress cannot be accomplished, resulting in pain, weakness, and cramping in the exercising muscle.
		Diagnosis of Type VII Glycogen Storage Disease is done by muscle biopsy, with a deficiency of the muscle phosphofructokinase enzyme and a modest accumulation of glycogen found.
	www.agsdus.org /html/typeviitarui.htm (254 words)

	AllRefer Health - Von Gierke Disease (Type I Glycogen Storage Disease)
		Von Gierke disease is a group of inherited metabolic disorders which involve increased glycogen storage.
		In the past, von Gierke disease was associated with stunted growth, delayed or absent puberty, and early death.
		All type I glycogen storage diseases are inherited in an autosomal recessive manner.
	health.allrefer.com /health/von-gierke-disease-info.html (419 words)

	eMedicine - Glycogen Storage Disease, Type VII : Article by Wayne E Anderson, DO
		Interestingly, GSD type 0 also is described, which is due to defective glycogen synthase.
		Hyperuricemia that is worsened by exercise in Tarui disease
		Zingone and colleagues demonstrated the abolition of the murine clinical manifestations of von Gierke disease with a recombinant adenoviral vector.
	www.emedicine.com /med/topic913.htm (1661 words)

	McArdle syndrome (glycogen storage disease type V)
		McArdle syndrome (glycogen storage disease type V) McArdle syndrome (glycogen storage disease type V) Injury
		McArdle syndrome is a metabolic disease characterized by an inability to break down glycogen, an important source of energy that is stored in muscle tissue.
		The disease is recessive, which means that a person must inherit the defective gene from both parents in order to be affected.
	www.healthcentral.com /ency/408/000329.html (283 words)

	Inhibition of microsomal glucose-6-phosphate transport in human neutrophils results in apoptosis: a potential ...
		Mutations in the gene of the hepatic glucose-6-phosphate transporter cause glycogen storage disease type 1b.
		Glucose-6-phosphatase of the liver in glycogen storage disease.
		In vitro and in vivo effects of granulocyte colony-stimulating factor on neutrophils in glycogen storage disease type 1B: granulocyte colony-stimulating factor therapy corrects the neutropenia and the defects in respiratory burst activity and Ca2+ mobilization.
	www.bloodjournal.org /cgi/content/full/101/6/2381 (5042 words)

	Merck Vet. Edition - Glycogen Storage Disease (Site not responding. Last check: 2007-10-09)
		In general, glycogen storage diseases are caused by a deficiency of certain enzymes and result in failure of glycogen to be released from the cell.
		Therefore, glycogen accumulates within the liver and other organs and is unavailable for conversion to glucose.
		Type I glycogen storage disease results from a deficiency in glucose-6-phosphatase and has been reported in toy-breed dogs.
	www.merckvetmanual.com /mvm/htm/bc/25628.htm (170 words)

	Pompe Disease Information, Resources, and Support
		Pompe disease is a rare and debilitating disease affecting both children and adults.
		Understand how Pompe disease is inherited, how it is diagnosed, and which supportive therapies are available to help manage it.
		Pompe disease was the first to be classified as a lysosomal storage disease (LSD), a family of more than 40 diseases that interfere with the body’s ability to degrade complex molecules within the lysosome.
	www.pompe.com (256 words)

	kingcountyjournal.com - Disease couldn't put a damper on teen's love of life (Site not responding. Last check: 2007-10-09)
		Disease couldn't put a damper on teen's love of life
		Doctors eventually diagnosed Glycogen Storage Disease Type IIIa, a rare genetic disorder that affects the liver, heart and muscles.
		N., Suite 300, Seattle, WA 98109 or to the Association for Glycogen Storage Disease Research, Attn: Barbara Hefter, 13 Tommy Luther Drive, Saratoga Springs, NY 12866.
	www.kingcountyjournal.com /sited/story/html/158076 (1127 words)

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