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Topic: Lipid storage myopathy

Related Topics

lipid anchored protein

lipid envelope

Neutral lipid storage myopathy

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Neutral lipid storage myopathy

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	Reference.com/Encyclopedia/Myopathy
		In medicine, a myopathy is a neuromuscular disease in which the muscle fibers do not function for any one of many reasons, resulting in muscular weakness.
		A less severe form of centronuclear myopathy that may present itself at birth or in early childhood progresses slowly and is inherited as an autosomal recessive genetic trait.
		The least severe of the three forms of centronuclear myopathy first appears during the second and third decades of life and is slowly progressive; it is inherited as an autosomal dominant genetic trait.
	www.reference.com /browse/wiki/Myopathy (509 words)

	Lipid storage myopathy Rifat Mannan AA, Ralte AM, Sharma MC, Gulati S, Kalra V, Sarkar C - Indian J Pediatr
		Lipid storage myopathy results from defect in any of the mitochondrial enzymes involved in fatty acid oxidation.
		Deficiency of carnitine has been associated with three distinct clinical syndromes: (i) primary carnitine deficiency associated with lipid myopathy[2]; (ii) primary systemic carnitine deficiency associated with hepatic encephalopathy and myopathy[3], and (iii) primary systemic carnitine deficiency associated with progressive cardiomyopathy[4].
		Although serum or muscle carnitine estimation could not be performed, the histologic evidence of lipid storage myopathy coupled with clinical response to levo-carnitine therapy strongly favors this diagnosis in the present case.
	www.ijppediatricsindia.org /article.asp?issn=0019-5456;year=2004;volume=71;issue=3;spage=277;epage=278;aulast=Rifat (815 words)

	Myopathy (Site not responding. Last check: 2007-10-26)
		Desmin storage myopathy (DSM) is a rare inherited muscle disorder that may be apparent at birth...
		Myotubular myopathy is a congenital polymyopathy - a disease some people are born with that affects multiple muscles in the body.
		Myopathies refer to a class of degenerative skeletal muscle disease that is not caused by nerve dysfunction.
	charcotmarieneuropathytooth.marsneuropathy.com /myopathy (839 words)

	Medical Dictionary: Neutral lipid storage myopathy - WrongDiagnosis.com
		Neutral lipid storage myopathy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Neutral lipid storage myopathy, or a subtype of Neutral lipid storage myopathy, affects less than 200,000 people in the US population.
		Terms that may be interchangeable with Neutral lipid storage myopathy:
	www.wrongdiagnosis.com /medical/neutral_lipid_storage_myopathy.htm (303 words)

	Emedicine Search Results for lysosomes (Site not responding. Last check: 2007-10-26)
		Angiokeratoma corporis diffusum is an X-linked inherited disorder caused by a deficiency of the lysosomal enzyme alpha-galactosi...
		Lipid Storage Disorders - Lipid storage disorders are a family of diverse diseases related by their molecular pathology.
		Fabry disease is an X-linked lysosomal storage disease that is caused by deficient activity of lysosomal enzyme a-galactosidase...
	www.emedicine.com /cgi-bin/foxweb.exe/searchengine@/em/searchengine?boolean=and&book=all&maxhits=100&HiddenURL=&query=lysosomes (444 words)

	results: lipid storage myopathy
		Lipid storage disorders (or lipidoses) are a group of inherited metabolic disorders in which harmful amounts of lipids (fats) accumulate in some of the body?s cells and tissues.
		In medicine, a myopathy is a neuromuscular disease in which the muscle fibers do not function for...
		Lipid Storage Diseases Fact Sheet: National Institute of Neurological...
	www.evamarquardt.de /lipid_storage_myopathy.html (235 words)

	Postpartum manifestation of a necrotising lipid storage myopathy associated with muscle carnitine deficiency -- ...
		Postpartum manifestation of a necrotising lipid storage myopathy associated with muscle carnitine deficiency
		Carnitine deficiency as a cause of lipid storage myopathy originates from a defect of carnitine transport into muscle cells.
		Lipid storage is the predominant histological manifestation in carnitine deficiency.
	jnnp.bmjjournals.com /cgi/content/full/64/3/407 (970 words)

	Cecil Textbook of Medicine : />
		Lipids are essential for the aerobic energy needs of muscle during sustained exercise.
		Serum long-chain fatty acids, which are the primary lipid fuel for muscle metabolism, are transported into the mitochondria as carnitine esters and are metabolized via β-oxidation.
		A lipid storage myopathy can be caused by primary carnitine deficiency or by another defect of fatty acid oxidation with secondary carnitine deficiency.
	www.merckmedicus.com /ppdocs/us/common/cecils/chapters/463_029.htm (188 words)

	DBGET Result: OMIM 201470
		SCAD deficiency is generalized in the former type and localized to skeletal muscles in the latter.
		(1999) described a novel phenotype of multicore myopathy and ophthalmoplegia (255320) in a 13.5-year-old Israeli girl in whom there was no detectable SCAD protein on Western blot analysis.
		The authors suggested that the muscle carnitine deficiency was secondary to this enzyme deficiency and urged that it be considered in other cases of lipid-storage myopathy with carnitine deficiency (212160).
	www.genome.ad.jp /dbget-bin/www_bget?omim+201470 (1927 words)

	Medical Dictionary: Neutral lipid storage myopathy - WrongDiagnosis.com - WrongDiagnosis.com
		Neutral lipid storage myopathy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Neutral lipid storage myopathy, or a subtype of Neutral lipid storage myopathy, affects less than 200,000 people in the US population.
		Triglyceride storage disease with impaired long-chain fatty acid oxidation
	wrongdiagnosis.com /medical/neutral_lipid_storage_myopathy_printer.htm (210 words)

	[No title]
		The common light microscopic feature in all cases of metabolic myopathy is a vacuolar myopathy.
		The lipid storage myopathy and mitochondrial disease affects muscle and other organs.
		The lipid accumulation represents a prominent or predominant pathological alteration.
	www.charite.de /ch/medgen/eumedis/neurogenetics05/patho-asp-metabol-myopathy.html (208 words)

	Decreased Fatty Acid {beta}-Oxidation in Riboflavin-Responsive, Multiple Acylcoenzyme A Dehydrogenase-Deficient ...
		deficiency (RR-MAD), a lipid storage myopathy, is characterized
		Lipid accumulation was determined using an Oil Red O stain as
		Engel AG, Angelini C 1973 Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome.
	jcem.endojournals.org /cgi/content/full/88/12/5921 (3557 words)

	myopathy Myopathy Differential Diagnosis
		myopathy this guidemap only consists of a few brief checklists of causes of the different types of myopathy that an emergency physician may encounter in clinical practice when dealing with a patient with
		Capture Myopathy Capture Myopathy - Despite their large size, all species of cranes are susceptible to Capture Myopathy.
		Equine Polysaccharide Storage Myopathy Equine Polysaccharide Storage Myopathy Equine polysaccharide storage myopathy EPSM is a form of rhabdomyolysis classified as a metabolic disease that results
	alanine.blog8.estateboard.com /1143310513.html (857 words)

	eMedicine - Carnitine Deficiency : Article by Fernando Scaglia, MD
		It also may present with a myopathy and increased lipid storage in patients with AIDS who are being treated with zidovudine.
		Muscle biopsy may be necessary to confirm the diagnosis of some conditions that may cause secondary carnitine deficiency (eg, respiratory chain defect) or to measure the carnitine concentration in muscle in cases of myopathic carnitine deficiency.
		Glycine (Aminoacetic acid) -- The simplest amino acid that helps improve glycogen storage is used in the synthesis of hemoglobin, collagen, and glutathione, and it facilitates the amelioration of high blood fat and uric acid levels.
	emedicine.com /PED/topic321.htm (6407 words)

	Successful treatment of familial idiopathic lipid storage myopathy with L-carnitine and modified lipid diet -- Snyder ...
		Successful treatment of familial idiopathic lipid storage myopathy with L-carnitine and modified lipid diet -- Snyder et al.
		Successful treatment of familial idiopathic lipid storage myopathy with L-carnitine and modified lipid diet
		lipid storage myopathy may be safely and effectivelv treated
	www.neurology.org /cgi/content/abstract/32/10/1106 (244 words)

	CIGNA - Ichthyosis, Chanarin Dorfman Syndrome
		It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat (lipids).
		Lipid droplets are also present in numerous other cells, including those of the skin and the ducts of sweat glands.
		Neutral lipid storage disease: a possible functional defect in phospholipid-linked triacylglycerol metab-olism.
	www.cigna.com /healthinfo/nord548.html (1453 words)

	eMedicine - Carnitine Deficiency : Article by Fernando Scaglia, MD
		In secondary carnitine deficiency, which is caused by other metabolic disorders (eg, fatty acid oxidation disorders, organic acidemias), carnitine depletion may be secondary to the formation of acylcarnitine adducts and the inhibition of carnitine transport in renal cells by acylcarnitines.
		In disorders of fatty acid oxidation, excessive lipid accumulation occurs in muscle, heart, and liver, with cardiac and skeletal myopathy and hepatomegaly.
		It also may present with a myopathy and increased lipid storage in patients with AIDS who are being treated with zidovudine.
	www.emedicine.com /ped/topic321.htm (6407 words)

	Specific Cardiomyopathy Caused by Multisystemic Lipid Storage in Jordan's Anomaly -- Oshima et al. 106 (2): 280 -- ...
		Specific Cardiomyopathy Caused by Multisystemic Lipid Storage in Jordan's Anomaly -- Oshima et al.
		Ultrastructurally, the lipid droplets were not membrane bound and had accumulated in large conglomerates between the myofibrils.
		Multisystemic lipid storage with Jordan’s anomaly is a
	circ.ahajournals.org /cgi/content/full/106/2/280 (349 words)

	Carnitine Deficiency: Undernutrition: Merck Manual Professional
		Muscle metabolism is impaired, causing myopathy, hypoglycemia, or cardiomyopathy.
		The amino acid carnitine is required for the transport of long-chain fatty acyl coenzyme A (CoA) esters into myocyte mitochondria, where they are oxidized for energy.
		Carnitine deficiency may cause muscle necrosis, myoglobinuria, lipid-storage myopathy, hypoglycemia, fatty liver, and hyperammonemia with muscle ache, fatigue, confusion, and cardiomyopathy.
	www.merck.com /mmpe/sec01/ch002/ch002c.html (199 words)

	lipid metabolism disorders
		Analysis of organic acids, amino acids, and carnitine in dogs with lipid storage myopathy
		This paper reports on a study of 25 dogs with a histological diagnosis of lipid storage myopathy.
		An evaluation was undertaken of the intermediates of major metabolic pathways in these dogs, and a comparison made with normal dogs.
	vetgate.ac.uk /browse/cabi/637ba3ce2350250f222adee2df2b1ffa.html (96 words)

	Medical Dictionary: Ichthyotic neutral lipid storage disease - WrongDiagnosis.com
		Ichthyotic neutral lipid storage disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Ichthyotic neutral lipid storage disease, or a subtype of Ichthyotic neutral lipid storage disease, affects less than 200,000 people in the US population.
		Terms that may be interchangeable with Ichthyotic neutral lipid storage disease:
	www.wrongdiagnosis.com /medical/ichthyotic_neutral_lipid_storage_disease.htm (308 words)

	Autosomal recessive lipid storage myopathy (probable carnitine deficiency) -- Almog et al. 16 (6): 435 -- Journal of ...
		Autosomal recessive lipid storage myopathy (probable carnitine deficiency) -- Almog et al.
		Autosomal recessive lipid storage myopathy (probable carnitine deficiency)
		Two sisters died at the age of 17 and 19, respectively, of a myopathy with
	jmg.bmjjournals.com /cgi/content/abstract/16/6/435 (157 words)

	Muscle Biopsy
		Myopathy: Increased endomysial connective tissue; Muscle fiber hypertrophy
		Absent myosin ATPase staining at all pHs: Myosin deficiency myopathies
		Titin: IHC not useful for diagnosis of LGMD 2J or Distal myopathy
	www.neuro.wustl.edu /neuromuscular/lab/mbiopsy.htm (811 words)

	EMedicine - Carnitine Deficiency : Article by Fernando Scaglia, MD L-Carnitine, Linus Pauling Institute"s Micronutrient ... (Site not responding. Last check: 2007-10-26)
		3 In disorders of fatty acid oxidation, excessive lipid accumulation occurs in muscle, heart, and liver, with cardiac and skeletal myopathy and hepatomegaly.
		c Histologic Findings: Biopsy of the liver may show microvesicular lipid steatosis that, along with the rest of the clinical picture, may lead to a diagnosis of Reye syndrome.
		6 It also may present with a myopathy and increased lipid storage in patients with AIDS who are being treated with zidovudine.
	carnitine.naxy.info /index.html (10294 words)

	Lipid Infusion Chronic Fatigue (Site not responding. Last check: 2007-10-26)
		sindbis virus (SIN) a model virus for lipid single 1 g/kg infusion of GAMMAGARD in 8 patients with chronic ITP (6 adults 2 children as mild to moderate hypotension headache fatigue Quality Infusion Care : Choose a topic: IV Antibiotic Therapy.
		Chronic Long CBC ; Metabolic panel ; Urinalysis ; Thyroid panel ; Cancer marker tests ; Chronic fatigue panel ; Drug screens ; Lipid panel The Development of Laboratory Based Tests in Chronic Pain and Fatigue: 2.
		Indications: Chronic Heavy Metal Chronic Fatigue: Indications: Chronic Fatigue IV Lipid Exchange.
	www.martinellislittleitaly.com /lipid-infusion-chronic-fatigue.htm (134 words)

	To lower triglycerid - LOWER TRIGLYCERIDE - trx.bestchler.org - lower triglyceride
		Lip lit syndrome · Lipid storage myopathy · Lipidosis with triglycerid storage disease Lowe syndrome · Lower limb anomaly ureteral obstruction
		Lipidosis with triglycerid storage disease · Lipoamide dehydrogenase deficiency · Lipoatrophic diabetes Lower limb anomaly ureteral obstruction
		A treatment with statin to lower lipids and the antiplatelet agent
	www.findoutsite.com /fos/to-lower-triglycerid.htm (372 words)

	Myopathy, Lipid Storage...still waiting for answers
		In June 2006, I went to Dr. Shaibani who did a muscle biopsy.
		His report said that there is evidence of Chronic Myopathy and a Lipid Storage Disease.
		However, he said that he would need to send my biopsy sample to Washington, DC for further analysis which could take another 2-3 months or longer.
	www.nerveandmuscle.org /Discussion/posts/291.html (190 words)

	[No title] (Site not responding. Last check: 2007-10-26)
		(1969) described the case of a 25-year-old woman, offspring of first-cousin parents, with myopathy involving the muscles of the neck and proximal limbs.
		Bradley, W. G.; Hudgson, P.; Gardner-Medwin, D.; Walton, J. Myopathy associated with abnormal lipid metabolism in skeletal muscle.
		Martyn, C.; Jellinek, E. H.; Webb, J. Lipid storage myopathy: successful treatment with propranolol.
	srs.embl-heidelberg.de:8000 /srs5bin/cgi-bin/wgetz?-e+[omim-id:255100] (154 words)

	Arch Neurol -- Abstract: Lipid storage myopathy in familial hyperlipoproteinemia, May 1984, Kinoshita and Wakata 41 ...
		Arch Neurol -- Abstract: Lipid storage myopathy in familial hyperlipoproteinemia, May 1984, Kinoshita and Wakata 41 (5): 551
		We studied a 23-year-old man with lipid storage myopathy.
		Administration of corticotropin or carnitine did not bring about any
	archneur.ama-assn.org /cgi/content/abstract/41/5/551 (84 words)

	Comparative Neuromuscular Laboratory
		Myofibrillar Myopathy with Desmin accumulation in a young Australian Shepherd dog.
		Feline immunodeficiency virus associated myopathy in the adult cat
		Analysis of organic acids, amino acids, and carnitine in dogs with lipid storage myopathy
	medicine.ucsd.edu /vet_neuromuscular/publications.html (801 words)

	Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)
		A milder late-onset form of Short-Chain Acyl-CoA Dehydrogenase Deficiency begins in the adult years.
		Symptoms include muscle weakness due to the accumulation of fatty acids in muscle tissue (lipid storage myopathy), abnormally low levels of the amino acid carnitine in muscle tissue (secondary carnitine deficiency), and high levels of acid in the urine.
		Short-Chain Acyl-CoA Dehydrogenase Deficiency is an extremely rare form of organic acidemia and all reported cases have occurred in females.
	hw.healthdialog.com /kbase/nord/nord1054.htm (1723 words)

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