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Topic: Cholesterol ester storage disease

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	Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy -- Levy et al. 33 (7): 1005 ...
		Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy -- Levy et al.
		Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy
		hepatic cholesteryl ester, a 12% decrease in unesterified hepatic
	www.jlr.org /cgi/content/abstract/33/7/1005 (423 words)

	Acid Lipase Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
		Acid lipase disease occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells and tissues.
		Wolman’s disease is an autosomal recessive disorder marked by the buildup of cholesteryl esters (normally a tranport form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body).
		Cholesteryl ester storage disease (CESD) is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue.
	www.ninds.nih.gov /disorders/acid_lipase/acid_lipase.htm (550 words)

	Lipid Storage Diseases Fact Sheet: National Institute of Neurological Disorders and Stroke (NINDS)
		Lipid storage diseases, or the lipidoses, are a group of inherited metabolic disorders in which harmful amounts of fatty materials called lipids accumulate in some of the body’s cells and tissues.
		In addition to lipid storage diseases, other lysosomal storage diseases include the mucolipidoses, in which excessive amounts of lipids and sugar molecules are stored in the cells and tissues, and the mucopolysaccharidoses, in which excessive amounts of sugar molecules are stored.
		Lipid storage diseases are inherited from one or both parents who carry a defective gene that regulates a particular protein in a class of the body’s cells.
	www.ninds.nih.gov /disorders/lipid_storage_diseases/detail_lipid_storage_diseases.htm (3863 words)

	WOLMAN'S DISEASE: THE KING FAISAL SPECIALIST HOSPITAL
		In Wolman's disease, the LDL triglycerides, triglycerides and cholesteryl esters that enter the cells cannot be hydrolyzed, due to the deficiency of lysosomal acid lipase.
		The extreme degree of lipid storage that occurs in the small intestinal mucosa of Wolman's disease is responsible for the malabsorption of fats, excluding the normal enteral nutrition.
		Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
	www.kfshrc.edu.sa /annals/182/97-264.html (2560 words)

	The Turkish Journal of Pediatrics
		Cholesteryl ester storage disease (CESD), due to the deficiency of lysosomal acid lipase (LAL), is a rare autosomal recessive lysosomal storage disorder[1].
		Although CESD is not a frequent cause of hepatomegaly, it is usually presented with hepatomegaly, hyperlipidemia or elevated transaminase levels in routine controls or found coincidentally during examination for other health problems[1,4,7-9,14,15].
		hypoglycemia and lactic acidosis in glycogen storage disease), liver biopsy and enzymatic analyses[1,8].
	tjp.dergisi.org /text.php3?id=324 (1612 words)

	eMedicine - Lysosomal Storage Disease : Article by Noah S Scheinfeld, MD, JD, FAAD
		Farber disease is a rare lysosomal storage disease characterized by the accumulation of ceramide in tissues because of acid ceramidase deficiency.
		Glycogen storage disease type II, or acid alpha-glucosidase (acid maltase) deficiency, is an inherited disorder of glycogen metabolism resulting from defective activity of the lysosomal enzyme alpha-glucosidase in tissues of affected individuals.
		Wolman disease is fatal in infancy, and cholesteryl ester storage disease is a milder form and usually manifests in adulthood.
	www.emedicine.com /neuro/topic668.htm (7813 words)

	DBGET Result: OMIM 278000
		Patrick and Lake (1969) demonstrated deficiency of an acid lipase (cholesteryl ester hydrolase; EC 3.1.1.13) which apparently leads to the progressive accumulation of triglycerides and cholesterol esters in lysosomes in the tissues of affected persons.
		Presumably, cholesterol ester storage disease is a disorder allelic to Wolman disease (Assmann and Fredrickson, 1983), but experiments such as cell-fusion studies have not, to my knowledge, been done to establish this as fact.
		In contrast to Wolman disease, cholesterol ester storage disease is relatively benign; however, in 1 sibship 3 sisters died of acute hepatic failure at the ages of 7, 9, and 17 years (Beaudet et al., 1977).
	www.genome.ad.jp /dbget-bin/www_bget?mim:278000 (2843 words)

	Lipids in Health and Disease \| Full text \| Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent ...
		Cholesterol ester storage disease (CESD) is an autosomal recessive illness that results from mutations in the LIPA gene encoding lysosomal acid lipase.
		Cholesteryl ester storage disease (CESD; MIM 278000) is an autosomal recessive disorder caused by a deficiency of lysosomal acid lipase (LAL; acid cholesteryl hydrolase; EC 3.1.1.13).
		LAL is responsible for the intralysosomal hydrolysis of cholesteryl esters (CE) and triglycerides (TG) [1].
	www.lipidworld.com /content/4/1/26 (2903 words)

	THE MERCK MANUAL, Sec. 2, Ch. 16, Hypolipidemia And The Lipidoses
		Type C is a nonfamilial lysosomal storage disease caused by an error in cellular trafficking of exogenous cholesterol and characterized by lysosomal accumulation of unesterified cholesterol.
		Wolman's disease and cholesteryl ester storage disease (see below) appear to be allelic (major phenotypes of the same genetic disorder), both involving mutations in the gene encoding acid cholesteryl hydrolyzers.
		A rare recessive familial disease characterized by the accumulation of plant sterols in the blood and tissues and by the occurrence of tendon and tuberous xanthomas, premature atherosclerosis, and abnormal RBCs.
	www.merck.com /mrkshared/mmanual/section2/chapter16/16b.jsp (1659 words)

	AFIP: Department of Veterinary Pathology Wednesday Slide Conference
		The disease described in the fox terrier shares many clinical and morphological similarities with human diseases characterized by complete or incomplete deficiency of the lysosomal enzyme acid lipase (cholesterol ester hydrolase).
		The onset of clinical disease in the fox terrier at the age of approximately one-year-old is comparatively late.
		It is primarily a disease of the elderly.
	www.afip.org /vetpath/WSC/wsc00/00wsc19.htm (2786 words)

	USCAP 2002 Annual Meeting
		The major advance in understanding of this group of diseases is the recognition that most if not all are due to interference with mitochondrial function which may result in overproduction of toxic metabolites that interfere with cellular metabolism and/or inadequate production of energy and energy-producing substrates.
		There are currently 22 recognized autosomal recessive diseases (mostly rare) in this group, each representing an abnormality in one of the membrane-bound transport proteins (3 plasma membrane proteins, 9 mitochondrial membrane proteins) or one of 10 enzymes of the mitochondrial matrix involved in the metabolism of fatty acids to produce energy.
		Cholesterol ester storage disease and Wolman's disease are adult and infantile forms (respectively) of lysosomal acid lipase deficiency.
	www.uscap.org /site~/91st/companion10b.htm (1682 words)

	Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester ...
		Cholesteryl ester storage disease (CESD), in contrast, is characterized
		Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease.
		Wolman disease due to homozygosity for a novel truncated variant of lysosomal acid lipase (351insA) associated with complete in situ acid lipase deficiency.
	www.jlr.org /cgi/content/full/40/2/221 (4369 words)

	Cholesterol Levels, Treatment and Medication : Doctor-Reviewed Information at Healthline.com
		Cholesterol is a soft, waxy substance found in all parts of the body.
		Cholesterol is manufactured in the liver for normal body functions, including the production of hormones, bile acid, and vitamin D. It is transported in the blood to be used by all parts of the body.
		Lipoproteins are mixtures of fatty cholesterol and proteins in the blood that transport cholesterol, triglycerides, and other lipids to various tissues.
	www.healthline.com /channel/cholesterol.html (993 words)

	Subclinical course of cholesterol ester storage disease ( CESD) diagnosed in adulthood. Report on two cases with ... (Site not responding. Last check: )
		Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood.
		An extremely benign variant of cholesterol ester storage disease (CESD) was diagnosed in two female patients aged 43 and 56 years.
		These cases represent a rare adult variant the existence of which should be borne in mind in the differential diagnosis of chronic liver disease in advanced age and of hyperlipoproteinaemic states.
	www.ihop-net.org /UniPub/iHOP/gp/6560671.html (237 words)

	Lysosomal Storage Disease from Neurology / Pediatric Neurology (Site not responding. Last check: )
		Farber disease is a rare LSD characterized by the accumulation of ceramide in tissues because of acid ceramidase deficiency.
		Niemann-Pick disease C2 Gaucher disease types I, II, and III (beta-glucosidase): Gaucher disease, a common LSD, is associated with mutations at the acid beta-glucosidase (GCase) locus.
		Glycogen storage disease type II, acid alpha-glucosidase (acid maltase) deficiency, is an inherited disorder of glycogen metabolism resulting from defective activity of the lysosomal enzyme alpha-glucosidase in tissues of affected individuals, resulting in intralysosomal accumulation of glycogen of normal structure in numerous tissues.
	users3.ev1.net /~drtony/lysozone.htm (6675 words)

	SAS Centre : Assays : Genetic Enzymes : Wolman Disease and Cholesterol Ester Storage Disease
		Wolman disease is a severe disorder with early presentation of hepatosplenomegaly, abdominal distension, failure to thrive and adrenal calcification.
		The SAS laboratory was involved with diagnosis of one adult patient who requested follow up after elevated plasma cholesterol was detected with a home cholesterol kit.
		Between the most severe and mild forms of the diseases there are several intermediate phenotypes.
	www.sas-centre.org /assays/genetic_enzymes/lysstodiswolmandisease.html (130 words)

	CHOLESTEROL ESTER STORAGE DISEASE
		A rare benign adult form of inherited lysosomal lipid storage disease that is due to deficiency of acid lipase.
		It results in an accumulation of neutral lipids, particularly cholesterol esters, within cells (particularly leukocytes, fibroblasts, and liver cells).
		It is an allelic variant of Wolman disease.
	www.websters-online-dictionary.com /definition/english/Ch/Cholesterol_Ester_Storage_Disease.html (197 words)

	Cholesterol ester storage disease - definition from Biology-Online.org
		a rare benign adult form of inherited lysosomal lipid storage disease that is due to deficiency of acid lipase.
		It results in an accumulation of neutral lipids, particularly cholesterol esters, within cells (particularly leukocytes, fibroblasts, and liver cells).
		It is an allelic variant of wolman disease.
	www.biology-online.org /dictionary/Cholesterol_ester_storage_disease (130 words)

	eMedicine - Niemann-Pick Disease : Article by Margaret McGovern, MD, PhD
		Growth: Patients with moderate-to-severe type B disease typically experience growth retardation in childhood and attain a final adult height that is less than expected based on familial heights.
		Pulmonary disease: Pulmonary disease is progressive in patients with type B disease and may result in oxygen dependance.
		Prognosis in patients with type B disease varies widely and presumably is related to the underlying mutations in the gene coding for sphingomyelinase.
	www.emedicine.com /ped/topic2889.htm (2022 words)

	International Center for Types A and B Niemann-Pick Disease - Mount Sinai School of Medicine (Site not responding. Last check: )
		It should be noted that the presence of NPD foam cells is not pathognomonic for NPD, since histologically similar cells are found in patients with Wolman disease, cholesterol ester storage disease, and lipoprotein lipase deficiency and in some patients with GM1 gangliosidosis, type 2.
		In frozen sections, the droplets stain positive for lipid with Sudan fl B and oil red O. The Schultz reaction for cholesterol is positive in most NPD cells, a reaction that is negative in Gaucher cells.
		As the disease progresses, the lymph nodes may become extensively involved, often enlarging to three to five times their normal size.
	www.mssm.edu /niemann-pick/pathology.shtml (1712 words)

	Thomas Jefferson University - Lysosomal Diseases Testing Laboratory
		Lysosomal storage diseases are genetic disorders resulting from mutations in genes coding for proteins involved in the degradation of normal body compounds, including lipids, proteins and complex carbohydrates.
		While most lysosomal disorders are caused by defects in genes coding for enzymes, some are caused by defects in genes coding for transport proteins, activator proteins, protective proteins or enzymes involved in the processing of lysosomal enzymes or substrates.
		In most cases the chosen treatment simply slows the course of the disease; it is therefore critical to make a specific diagnosis in a patient as early as possible in order for the selected treatment to have its maximum effect.
	www.tju.edu /lysolab/faq.cfm (849 words)

	The Donald S. Fredrickson Papers: Lipid Metabolism and Genetic Disease, 1953-1974
		Lipids, which include fats and cholesterol, are easily stored in the body, where they serve as a source of energy and are an important element in the structure of cells.
		Arriving at the National Institutes of Health in Bethesda in 1953 after two years of post-doctoral training in lipid chemistry at the Massachusetts General Hospital, Fredrickson specialized in the study of plasma lipoproteins and their genetic variation in man. Lipoproteins are compound molecules of lipids and proteins transported in the blood.
		The first of these was cholesterol ester storage disease, the result of a deficiency of a fat-splitting enzyme called acid lipase.
	profiles.nlm.nih.gov /FF/Views/Exhibit/narrative/scientist.html (937 words)

	Restoration of a regulatory response to low density lipoprotein in acid lipase-deficient human fibroblasts -- Brown et ...
		and Cholesteryl Ester Storage Disease) are defective in their ability to
		Disease cells to respond to the lipoprotein by suppression of
		lysosomal acid lipase in the cellular metabolism of LDL cholesteryl esters
	www.jbc.org /cgi/content/abstract/251/11/3277 (435 words)

	NEUROLOGICAL DISORDERS - Acid Lipase Disease (Cholesterol Ester Storage Disease, Wolman’s Disease)
		NEUROLOGICAL DISORDERS - Acid Lipase Disease (Cholesterol Ester Storage Disease, Wolman’s Disease)
		Acid Lipase Disease (Cholesterol Ester Storage Disease, Wolman’s Disease)
		Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone, jaundice, anaemia, vomiting, malnourishment, gastrointestinal problems, and calcium deposits in the adrenal glands, causing them to harden.
	www.medic8.com /neurological-disorders/acid-lipase.htm (455 words)

	Human protein: Q5T074 - Lipase A, lysosomal acid, cholesterol esterase (Wolman disease). EMBL Bioinformatics Harvester
		This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides.
		wd is a severe manifestation of lipa deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body.
		cesd is a mild manifestation of lipa deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body.
	harvester.embl.de /harvester/Q5T0/Q5T074.htm (765 words)

	Medical Dictionary: Wolman disease - WrongDiagnosis.com
		Wolman disease: severe infantile form of inherited lysosomal lipid storage disease due to deficiency of acid lipase; results in accumulation of neutral lipids, particularly cholesterol esters, within cells.
		Wolman disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Wolman disease, or a subtype of Wolman disease, affects less than 200,000 people in the US population.
	www.wrongdiagnosis.com /medical/wolman_disease.htm (278 words)

	Amazon.com: "cholesteryl ester storage disease": Key Phrase page (Site not responding. Last check: )
		See all pages with references to cholesteryl ester storage disease.
		namely Wolman's disease and cholesteryl ester storage disease, that are a consequence of an absence of, or a deficiency in, lysosomal cholesteryl esterase (Hoeg et al.,...
		223 Wolman disease and cholesteryl ester storage disease, 226 Congenital disorders of glycosylation (carbohydrate deficient glycoprotein (CDG) syndrome), 227 Mitochondrial respiratory chain disorders, 228 Peroxisomal disorders, 229 Alpers-Huttenlochler...
	www.amazon.com /phrase/cholesteryl-ester-storage-disease (610 words)

	Cholesterol Ester Articles - Cholesterol Ester Secrets (Site not responding. Last check: )
		Nejm reduction of serum cholesterol with sitostanol ester margarine in a mildly hypercholesterolemic population.
		Relation between cholesterol ester transfer protein activities and lipoprotein cholesterol in patients role of cholesterol ester transfer protein and lecithin.
		Plant sterols and stanols, structural analogues of cholesterol, have been shown to substantially reduce total and LDL cholesterol concentrations under a variety of study conditions.
	www.cholesterol-research-online.info /cholesterol-ester.html (1131 words)

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