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Topic: Glycogen storage disease type V

	CIGNA - Glycogen Storage Disease Type V
		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.
		Pompe Disease is a hereditary glycogen storage disease.
		GLYCOGEN STORAGE DISEASE (GSD) TYPE V and VII.
	www.cigna.com /healthinfo/nord395.html (1604 words)

	CIGNA - Glycogen Storage Disease Type VII
		GSD type VII usually begins in childhood and is characterized by weakness, pain and stiffness during exercise, sometimes associated with nausea and vomiting and dark, burgundy-colored urine due to the presence of myoglobin (myoglobinuria).
		Glycogen storage disease type VII is caused by abnormalities (mutations) in the muscle phosphofructokinase gene that results in a deficiency of the phosphofructokinase enzyme.
		Glycogen storage disease type VII is inherited as an autosomal recessive genetic disorder.
	www.cigna.com /healthinfo/nord397.html (1194 words)

	Glycogen storage disease type V - Wikipedia, the free encyclopedia
		Glycogen storage disease type V is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of myophosphorylase, the muscle isoform of the enzyme glycogen phosphorylase.
		The inability to break down glycogen into glucose results in an energy shortage within the muscle, resulting in muscle pain and cramping, and sometimes causing serious injury to the muscles.
		The disease is hereditary and is inherited as an autosomal recessive trait.
	en.wikipedia.org /wiki/McArdle_disease (174 words)

	Glycogen Storage Disease Type V
		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.
		Pompe Disease is a hereditary glycogen storage disease.
		GLYCOGEN STORAGE DISEASE (GSD) TYPE V and VII.
	hw.healthdialog.com /kbase/nord/nord395.htm (1554 words)

	AGSD - UK Site - Type V (Site not responding. Last check: 2007-11-07)
		McArdle's disease (Glycogen Storage Disease Type V or GSD V) is a rare metabolic myopathy involving the glycolytic pathway.
		Affected patients are unable to produce myophosphorylase, the enzyme involved in the phosphorolytic cleavage of glycogen to glucose-1-6- phosphate and glucose during anaerobic exercise.
		Individuals born with McArdle's disease are unable to produce an enzyme known as myophosphorylase, which is important for creating a fuel source for exercise.
	www.agsd.org.uk /home/type5.asp (899 words)

	- Northwestern Memorial Hospital - Chicago
		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.
		Although most patients are not diagnosed with this disease until they reach their 20s or 30s, many report having had poor tolerance for exercise in childhood.
	www.nmh.org /nmh/adam/adamencyclopedia/HIEArticles/000329.htm (564 words)

	Type I: von Gierke
		Type I Glycogen Storage Disease accounts for about 25% of all cases of GSD diagnosed in the USA and in Europe and has an estimated incidence of about 1 in 100,000 live births.
		Because the diet for Type I Glycogen Storage Disease is complex, the ideal team should include a dietitian and a physician familiar with the long-term care and maintenance related to GSD I. Patients with Type I Glycogen Storage Disease may develop benign tumors in the liver called hepatic adenomas.
		Renal (kidney) disease is another complication in GSD I patients, and most patients with type I glycogen storage disease older than age 20 yr have proteinuria (proteins excreted in urine).
	www.agsdus.org /html/typeivongierke.htm (1302 words)

	THE MERCK MANUAL--SECOND HOME EDITION, Carbohydrate Metabolism in Ch. 282, Hereditary Metabolic Disorders
		These diseases are caused by a hereditary lack of one of the enzymes that is essential to the process of forming glucose into glycogen and breaking down glycogen into glucose.
		For types I, III, and VI, symptoms are low levels of sugar in the blood and protrusion of the abdomen (because excess or abnormal glycogen may enlarge the liver).
		In type I glycogen storage disease, kidney failure is common in the second decade of life or later.
	www.merck.com /mmhe/sec23/ch282/ch282b.html (1034 words)

	Indian Pediatrics - Case Reports
		Type III glycogen storage disease (GSD), an autosomal recessive disease, is caused by deficient glycogen debranching enzyme (GDE) activity.
		Increased glycogen content in his erythrocytes and deficiency of amylo-1-6 glucosidase activity in the leukocytes was in agreement with a diagnosis of glycogenosis type III.
		Differ-entiation between type I and type III GSD was made by the intravenous glucagon test in the immediate post-prandial period when there is usually a rise in blood sugar levels in type III but not in type I patients(4).
	www.indianpediatrics.net /june2000/june-670-673.htm (1050 words)

	MedlinePlus Medical Encyclopedia: McArdle syndrome
		McArdle syndrome is a disease characterized by an inability to break down glycogen.
		Glycogen an important source of energy that is stored in muscle tissue.
		The disease is inherited as an autosomal recessive genetic disorder.
	www.nlm.nih.gov /medlineplus/ency/article/000329.htm (440 words)

	Glycogen Metabolism
		Glycogen is considered the principal storage form of glucose and is found mainly in liver and muscle, with kidney and intestines adding minor storage sites.
		Glycogen phosphorylase is a homodimeric enzyme that exist in two distinct conformational states: a T (for tense, less active) and R (for relaxed, more active) state.
		For example, Type I glycogen storage disease (von Gierke's disease) is attributed to lack of glucose-6-phosphatase.
	www.indstate.edu /thcme/mwking/glycogen.html (2744 words)

	[No title]
		GLYCOGEN STORAGE DISEASE (GSD) TYPE V and VII - Glycogen Storage Disease, Type V. Glycogen Storage Disease Type V: caused by deficiency is muscle phosphorylase (myophosphorylase) deficiency.
		Glycogen Storage Disease Type V - 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
		Glycogen Storage Disease Type V; Glycogenosis Type V; Myophosphorylase Deficiency; GSD V; McArdle Disease,Glycogen Storage Disease Type V,Glycogenosis Type...
	www.diseasedirectory.net /Nutrition_and_Metabolism_Disorders/Glycogen_Storage_Disease_Type_I/default.aspx (620 words)

	whatisglycogenstoragedisease
		The underlying problem in all of the glycogen storage diseases is the use and storage of glycogen.
		Glycogen is mainly stored in the liver and muscle cells, but the kidneys and intestines also store some limited amounts of glycogen.
		Depending on the type of GSD a person has, their enzyme deficiency may be important in all parts of the body, or only in some parts of the body, like the liver or muscle.
	www.agsdus.org /html/whatisglycogenstoragedisease.html (850 words)

	eMedicine - Glycogen-Storage Disease Type V : Article by Edward J Cupler
		McArdle disease is caused by a deficiency of myophosphorylase (alpha-1,4-glucan orthophosphate glycosyl transferase), which normally initiates glycogen breakdown by removing 1,4-glucosyl groups from glycogen with the release of glucose-1-phosphate.
		McArdle disease is inherited in an autosomal recessive manner.
		McArdle disease is inherited in an autosomal recessive pattern.
	www.emedicine.com /ped/topic1385.htm (2459 words)

	Glycogen storage disease type 7 (Site not responding. Last check: 2007-11-07)
		Glycogen storage disease type VII (Tarui's disease) is rare as it has only been documented with around 30 cases and affects Japanese and Ashkenazic Jews mainly.
		Clinical signs are muscular exercise intolerance (more severe than in type V) with no 'second wind' phenomenon: fatigue, vomiting, muscle weakness, myalgia, cramps, and myoglobinuria.
		Biologically, increased amounts of abnormal glycogen and enzyme deficiency (1 to 33% residual activity) are diagnostic in a muscle biopsy (whereas activity in erythrocytes is over 50%).
	orphanet.infobiogen.fr /static/GB/glycogen_storage_disease_type_7.html (202 words)

	About McArdle's
		McArdle's disease is caused by a genetic defect that results in an inability of muscle to break down glycogen (a form of carbohydrate stored in the muscles).
		The first case of McArdle's disease was diagnosed in 1951 by English physician Dr. Brian McArdle.
		A rare disease is the last thing a physician expects to find, therefore it will be the last thing he is looking for.
	members.aol.com /itsgumby/About.html (347 words)

	Glycogen Storage Diseases - New Jersey
		Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that cause glycogen to be improperly formed or released in the body.
		Since glycogen is primarily stored in the liver or muscle tissue, GSDs usually affect functioning of the liver, the muscles, or both.
		Type IV is sometimes treated with liver transplantation.
	www.somersetmedicalcenter.com /1441.cfm (776 words)

	Pharmacological and nutritional treatment for McArdle's disease (Glycogen Storage Disease type V)
		McArdle's disease (also known as glycogen storage disease type V) is a metabolic muscle disorder, caused by the absence of an enzyme called muscle phosphorylase.
		McArdle's disease (Glycogen Storage Disease type V) is caused by the absence of the glycolytic enzyme, muscle phosphorylase.
		Because of the rarity of McArdle's disease, there is a need to develop multicentre collaboration and standardised assessment protocols for future treatment trials.
	www.cochrane.org /reviews/en/ab003458.html (655 words)

	► McArdle syndrome (glycogen storage disease type V)
		McArdle syndrome is a metabolic disease characterized by abnormal storage of glycogen in muscle tissue.
		McArdle disease is a genetic disease which results from deficiency of a specific enzyme called phosphorylase in muscles.
		Without phosphorylase, glycogen (an important source of sugar and energy) can not be broken down and it builds up to high level in muscle.
	www.umm.edu /ency/article/000329.htm (247 words)

	Type 0
		Type 0 Glycogen Storage Disease (GSD 0) is caused by a deficiency in the enzyme named glycogen synthase.
		Low amounts of glycogen in the liver mean that when a person is not eating (fasting) their blood sugar levels can get very low (hypoglycemia).
		Glycogen synthase deficiency is caused by a change in the glycogen synthase-2 (GYS2) gene.
	www.agsdus.org /html/type0.html (602 words)

	McArdle syndrome (glycogen storage disease type V)
		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.
		Although most patients are not diagnosed with this disease until they reach their 20s or 30s, many report having had poor tolerance for exercise in childhood.
	www.adam.com /democontent/hie/ency/article/000329.htm (546 words)

	onee
		McArdle’s Syndrome (Glycogen Storage Disease Type V) is a rare genetically inherited Neuro-Muscular disease.
		It is important to note that my eventual diagnosis was somewhat complicated by the fact I had a left quadriceps tendon resection and transplant in 1999 after falling on a patch of ice.
		Well, that’s what I feel like everyday with GSD Type V. While most people get over a bad sunburn in a week or two the burning fire and extreme sensitivity I feel from McArdle’s Syndrome never goes away.
	www.geocities.com /glycogenstorage/onee.html (669 words)

	Disease - Phosphorylase Deficiency (Site not responding. Last check: 2007-11-07)
		McArdle disease is a glycogen storage disease caused by an inborn lack of the enzyme muscle phosphorylase.
		Autosomal recessive inheritance requires that both the mother and father have at least one copy of an altered gene located on one of the 22 autosomes (that is, not the X or Y chromosomes).
		These parents may be carriers who show no signs of the disease (i.e., each has one copy of an altered gene), but they have a 25% chance of producing either a normal child or a child with the disease; they have a 50% chance of producing offspring who are carriers with no signs of disease.
	disability.ucdavis.edu /resources/diseases/list/disease.asp?id=42 (501 words)

	eMedicine - Glycogen Storage Disease, Type V : Article Excerpt by: Wayne E Anderson, DO
		Background: A glycogen storage disease (GSD) is the result of an enzyme defect.
		Interestingly, GSD type 0 also is described and is a disorder causing glycogen deficiency due to defective glycogen synthase.
		One hallmark of McArdle disease is weakness with exertion.
	www.emedicine.com /med/byname/glycogen-storage-disease-type-v.htm (568 words)

	Glycogen storage disease (Site not responding. Last check: 2007-11-07)
		Glycogen storage disease is any one of several metabolic disorders thatresult from enzyme defects that affect the processing of glycogen within muscles, liver, and other cell types.
		There are eight diseases that are commonly considered to be glycogen storage diseases:
		Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified withthe GSDs because it is another defect of glycogen storage and can cause similar problems.
	www.therfcc.org /glycogen-storage-disease-117891.html (99 words)

	University of Miami School of Medicine - Glossary - McArdle disease
		McArdle disease: Glycogen storage disease type V and the most common type of glycogen storage disease.
		McArdle disease is an autosomal recessive disorder caused by mutations in the gene that encodes myophosphorylase, an enzyme that is essential for glycogenolysis.
		In rare cases, McArdle disease is so severe it causes congenital weakness and progressive respiratory failure.
	www.med.miami.edu /glossary/art.asp?articlekey=25883 (180 words)

	Glycogen Storage Disease
		Association for Glycogen Storage Disease PO Box 896 Durant, Iowa, USA, 52747-9769 (319) 785-6038 (phone and fax).
		Glycogen Storage disease I (glucose-6-phosphatase deficiency, Von Gierke) II (alpha glucosidase deficiency, Pompe) III (debrancher enzyme deficiency, Cori) IV (brancher enzyme deficiency, Anderson)...
		Glycogen Storage Disease (GSD) encompasses various metabolic disorders that affects....
	www.health-nexus.net /glycogen_storage_disease.htm (281 words)

	Eruptive xanthomas
		This may be due to a primary hyperlipoproteinemia resulting from a genetic deficiency of lipoprotein lipase (Type 1 hyperlipoproteinemia) or familial hyperlipoproteinemia (Type V).
		Whenever insulin deficiency is present, an acquired liproprotein lipase deficiency exists, which results in impaired clearance of chylomicrons and very-low-density lipoproteins causing the resultant hypertriglyceridemia.
		Rarely, eruptive xanthomas have been reported with hypothyroidism, nephrotic syndrome, and von Gierke's glycogen storage disease.
	dermatology.cdlib.org /DOJvol7num2/nyu2/1/1.html (413 words)

	Glycogen Storage Disease
		Follow-up Miscellaneous Bibliography Background: Glycogen storage disease type II (GSDII), also referred to as Pompe disease...
		Von Gierke disease is a group of inherited metabolic disorders which involve increased glycogen storage...
		Glycogen Storage Disease Type V - Glycogenosis 5 - McArdle's Disease - Deficiency, Muscle Phosphorylase...
	www.health-nexus.org /glycogen_storage_disease.htm (281 words)

	Decreased insulin action in skeletal muscle from patients with McArdle's disease -- Nielsen et al. 282 (6): 1267 -- AJP ...
		Muscle glycogen content was measured fluorometrically as glucose residues after acid hydrolysis, as described (29).
		Glycogen synthase activity was measured in triplicate on 5 µl of lysate in buffer A by a modification of the method by Thomas
		Glycogen synthase activity expressed as fractional velocity (A) and %independent form (%I-form; B) in McArdle patients and control subjects, measured before (basal) and at the end of a euglycemic-hyperinsulinemic clamp procedure (insulin) and expressed as %increase above basal (n = 6).
	ajpendo.physiology.org /cgi/content/full/282/6/E1267 (4943 words)

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