Cholesterol Ester Storage Disease: An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.Wolman Disease: The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.Sterol Esterase: An enzyme that catalyzes the hydrolysis of CHOLESTEROL ESTERS and some other sterol esters, to liberate cholesterol plus a fatty acid anion.Cholesterol Esters: Fatty acid esters of cholesterol which constitute about two-thirds of the cholesterol in the plasma. The accumulation of cholesterol esters in the arterial intima is a characteristic feature of atherosclerosis.Lipid Metabolism, Inborn Errors: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.Lipase: An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. It is produced by glands on the tongue and by the pancreas and initiates the digestion of dietary fats. (From Dorland, 27th ed) EC 3.1.1.3.Lysosomes: A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured. Such rupture is supposed to be under metabolic (hormonal) control. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)Fatty Liver: Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS.Liver: A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.Liver Cirrhosis: Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules.Copyright: It is a form of protection provided by law. In the United States this protection is granted to authors of original works of authorship, including literary, dramatic, musical, artistic, and certain other intellectual works. This protection is available to both published and unpublished works. (from Circular of the United States Copyright Office, 6/30/2008)Biochemical Processes: Chemical reactions or functions, enzymatic activities, and metabolic pathways of living things.Molecular Biology: A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.Laboratories: Facilities equipped to carry out investigative procedures.Systems Biology: Comprehensive, methodical analysis of complex biological systems by monitoring responses to perturbations of biological processes. Large scale, computerized collection and analysis of the data are used to develop and test models of biological systems.Biology: One of the BIOLOGICAL SCIENCE DISCIPLINES concerned with the origin, structure, development, growth, function, genetics, and reproduction of animals, plants, and microorganisms.EnglandMalabsorption Syndromes: General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.Hyperlipoproteinemia Type I: An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.Internet: A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.Search Engine: Software used to locate data or information stored in machine-readable form locally or at a distance such as an INTERNET site.Sexology: This discipline concerns the study of SEXUALITY, and the application of sexual knowledge such as sexual attitudes, psychology, and SEXUAL BEHAVIOR. Scope of application generally includes educational (SEX EDUCATION), clinical (SEX COUNSELING), and other settings.Information Storage and Retrieval: Organized activities related to the storage, location, search, and retrieval of information.Parapsychology: Branch of psychology that deals with paranormal behavior and events such as telepathy, precognition, and clairvoyance, which are not explicable by present day "natural laws".PubMed: A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.Lactobacillus brevis: A species of gram-positive, rod-shaped LACTIC ACID bacteria that is frequently used as starter culture in SILAGE fermentation, sourdough, and lactic-acid-fermented types of beer and wine.Liver Cirrhosis, Biliary: FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes.Newcastle disease virus: The most well known avian paramyxovirus in the genus AVULAVIRUS and the cause of a highly infectious pneumoencephalitis in fowl. It is also reported to cause CONJUNCTIVITIS in humans. Transmission is by droplet inhalation or ingestion of contaminated water or food.Liver Transplantation: The transference of a part of or an entire liver from one human or animal to another.Dihydrolipoyllysine-Residue Acetyltransferase: An enzyme that catalyzes the acetyltransferase reaction using ACETYL CoA as an acetyl donor and dihydrolipoamide as acceptor to produce COENZYME A (CoA) and S-acetyldihydrolipoamide. It forms the (E2) subunit of the PYRUVATE DEHYDROGENASE COMPLEX.Newcastle Disease: An acute febrile, contagious, viral disease of birds caused by an AVULAVIRUS called NEWCASTLE DISEASE VIRUS. It is characterized by respiratory and nervous symptoms in fowl and is transmissible to man causing a severe, but transient conjunctivitis.Liver Diseases: Pathological processes of the LIVER.Fatigue: The state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli.Anesthesia, Intravenous: Process of administering an anesthetic through injection directly into the bloodstream.Arthroplasty, Replacement, Knee: Replacement of the knee joint.Knee Joint: A synovial hinge connection formed between the bones of the FEMUR; TIBIA; and PATELLA.Tourniquets: Devices for the compression of a blood vessel by application around an extremity to control the circulation and prevent the flow of blood to or from the distal area. (From Dorland, 28th ed)Osteoarthritis, Knee: Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)Arthroplasty, Replacement: Partial or total replacement of a joint.Fluid Therapy: Therapy whose basic objective is to restore the volume and composition of the body fluids to normal with respect to WATER-ELECTROLYTE BALANCE. Fluids may be administered intravenously, orally, by intermittent gavage, or by HYPODERMOCLYSIS.Placenta: A highly vascularized mammalian fetal-maternal organ and major site of transport of oxygen, nutrients, and fetal waste products. It includes a fetal portion (CHORIONIC VILLI) derived from TROPHOBLASTS and a maternal portion (DECIDUA) derived from the uterine ENDOMETRIUM. The placenta produces an array of steroid, protein and peptide hormones (PLACENTAL HORMONES).Hematopoietic Stem Cell Transplantation: Transfer of HEMATOPOIETIC STEM CELLS from BONE MARROW or BLOOD between individuals within the same species (TRANSPLANTATION, HOMOLOGOUS) or transfer within the same individual (TRANSPLANTATION, AUTOLOGOUS). Hematopoietic stem cell transplantation has been used as an alternative to BONE MARROW TRANSPLANTATION in the treatment of a variety of neoplasms.Stem Cell Transplantation: The transfer of STEM CELLS from one individual to another within the same species (TRANSPLANTATION, HOMOLOGOUS) or between species (XENOTRANSPLANTATION), or transfer within the same individual (TRANSPLANTATION, AUTOLOGOUS). The source and location of the stem cells determines their potency or pluripotency to differentiate into various cell types.Stem Cells: Relatively undifferentiated cells that retain the ability to divide and proliferate throughout postnatal life to provide progenitor cells that can differentiate into specialized cells.Transplantation, Homologous: Transplantation between individuals of the same species. Usually refers to genetically disparate individuals in contradistinction to isogeneic transplantation for genetically identical individuals.Transplantation, Autologous: Transplantation of an individual's own tissue from one site to another site.Umbilical Cord: The flexible rope-like structure that connects a developing FETUS to the PLACENTA in mammals. The cord contains blood vessels which carry oxygen and nutrients from the mother to the fetus and waste products away from the fetus.Translational Medical Research: The application of discoveries generated by laboratory research and preclinical studies to the development of clinical trials and studies in humans. A second area of translational research concerns enhancing the adoption of best practices.Awards and PrizesNational Institutes of Health (U.S.): An operating division of the US Department of Health and Human Services. It is concerned with the overall planning, promoting, and administering of programs pertaining to health and medical research. Until 1995, it was an agency of the United States PUBLIC HEALTH SERVICE.Political Systems: The units based on political theory and chosen by countries under which their governmental power is organized and administered to their citizens.Democracy: A system of government in which there is free and equal participation by the people in the political decision-making process.National Center for Health Statistics (U.S.): A center in the PUBLIC HEALTH SERVICE which is primarily concerned with the collection, analysis, and dissemination of health statistics on vital events and health activities to reflect the health status of people, health needs, and health resources.Politics: Activities concerned with governmental policies, functions, etc.

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. (1/20)

Cholesteryl ester storage disease and Wolman disease are rare autosomal recessive lipoprotein-processing disorders caused by mutations in the gene encoding human lysosomal acid lipase. Thus far we have elucidated the genetic defects in 15 unrelated CESD patients. Seven were homozygotes for the prevalent hLAL exon 8 splice junction mutation which results in incomplete exon skipping, while eight probands were compound heterozygotes for E8SJM and a rare mutation on the second chromosome. In this report, we describe the molecular basis of CESD in three compound heterozygous subjects of Czech and Irish origin. RFLP and DNA sequence analysis revealed that they were heteroallelic for the common G(934)-->A substitution in exon 8 of the hLAL gene and a mutation which, if inherited on both alleles, would be expected to result in complete loss of enzyme activity and to cause Wolman disease. In patients A. M. and J. J., two nucleotide deletions in exons 7 and 10 were detected, involving a T at position 722, 723, or 724 and a G in a stretch of five guanosines at positions 1064;-1068 of the hLAL cDNA. Both mutations result in premature termination of protein translation at residues 219 and 336, respectively, and in the production of truncated, inactive enzymes. Subject D. H., in contrast, is a compound heterozygote for the Arg(44)-->Stop mutation previously described in a French CESD proband. Combined with data in the literature, our results demonstrate that compound heterozygosity for a mutation causing Wolman disease is common among cholesteryl ester storage disease patients.  (+info)

Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span. (2/20)

Lysosomal acid lipase (LAL) is essential for the hydrolysis of triglycerides (TG) and cholesteryl esters (CE) in lysosomes. A mouse model created by gene targeting produces no LAL mRNA, protein, or enzyme activity. The lal-/- mice appear normal at birth, survive into adulthood, and are fertile. Massive storage of TG and CE is observed in adult liver, adrenal glands, and small intestine. The age-dependent tissue and gross progression in this mouse model are detailed here. Although lal-/- mice can be bred to give homozygous litters, they die at ages of 7 to 8 months. The lal-/- mice develop enlargement of a single mesenteric lymph node that is full of stored lipids. At 6;-8 months of age, the lal-/- mice have completely absent inguinal, interscapular, and retroperitoneal white adipose tissue. In addition, brown adipose tissue is progressively lost. The plasma free fatty acid levels are significantly higher in lal-/- mice than age-matched lal+/+ mice, and plasma insulin levels were more elevated upon glucose challenge. Energy intake was also higher in lal-/- male mice, although age-matched body weights were not significantly altered from age-matched lal+/+ mice. Early in the disease course, hepatocytes are the main storage cell in the liver; by 3;-8 months, the lipid-stored Kupffer cells progressively fill the liver. The involvement of macrophages throughout the body of lal-/- mice provide evidence for a critical nonappreciated role of LAL in cellular cholesterol and fatty acid metabolism, adipocyte differentiation, and fat mobilization.  (+info)

Enzyme therapy for lysosomal acid lipase deficiency in the mouse. (3/20)

Lysosomal acid lipase (LAL) is the critical enzyme for the hydrolysis of the triglycerides (TG) and cholesteryl esters (CE) delivered to lysosomes. Its deficiency produces two human phenotypes, Wolman disease (WD) and cholesteryl ester storage disease (CESD). A targeted disruption of the LAL locus produced a null (lal( -/-)) mouse model that mimics human WD/CESD. The potential for enzyme therapy was tested using mannose terminated human LAL expressed in Pichia pastoris (phLAL), purified, and administered by tail vein injections to lal( -/-) mice. Mannose receptor (MR)-dependent uptake and lysosomal targeting of phLAL were evidenced ex vivo using competitive assays with MR-positive J774E cells, a murine monocyte/macrophage line, immunofluorescence and western blots. Following (bolus) IV injection, phLAL was detected in Kupffer cells, lung macrophages and intestinal macrophages in lal( -/-) mice. Two-month-old lal( -/-) mice received phLAL (1.5 U/dose) or saline injections once every 3 days for 30 days (10 doses). The treated lal( -/-) mice showed nearly complete resolution of hepatic yellow coloration; hepatic weight decreased by approximately 36% compared to PBS-treated lal( -/-) mice. Histologic analyses of numerous tissues from phLAL-treated mice showed reductions in macrophage lipid storage. TG and cholesterol levels decreased by approximately 50% in liver, 69% in spleen and 50% in small intestine. These studies provide feasibility for LAL enzyme therapy in human WD and CESD.  (+info)

Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy. (4/20)

To better characterize the in vivo effects of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibition on human lipid metabolism, an adolescent male with cholesteryl ester storage disease (CESD) was treated chronically with lovastatin. Therapy was associated with decreased liver-spleen size, improved but not normal serum lipids, a 26% decrease in hepatic cholesteryl ester, a 12% decrease in unesterified hepatic cholesterol, and a fourfold increase in hepatic low density lipoprotein (LDL) receptor protein. Hepatic mRNA levels for the LDL receptor and apolipoprotein (apo) B standardized to levels of hepatic gamma actin mRNA were unchanged with therapy. Kinetic studies revealed no change in the LDL fractional catabolic rate and a decrease in the LDL production rate. Size exclusion chromatography showed striking reductions in plasma very low density lipoprotein (VLDL) cholesterol and intermediate density lipoprotein (LDL) cholesterol but not LDL cholesterol with therapy. Mean LDL particle size and the LDL particle size range were increased by treatment. However, there was no difference in the ability of pretreatment or treatment LDL to bind to the LDL receptor on cultured cells consistent with previous studies in animals, indicating that lovastatin may alter LDL particles to impair interaction with the LDL receptor in vivo but not in vitro. Lovastatin therapy in CESD appears to be clinically beneficial and has complex effects on lipid metabolism that may include a dominant inhibitory effect on hepatic lipoprotein production, posttranscriptionally mediated induction of the LDL receptor, and alterations of LDL particles that interfere with their clearance by the LDL receptor in vivo.  (+info)

Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease. (5/20)

BACKGROUND: Cholesterol ester storage disease (CESD) is an autosomal recessive illness that results from mutations in the LIPA gene encoding lysosomal acid lipase. CESD patients present in childhood with hepatomegaly and dyslipidemia characterized by elevated total and low-density lipoprotein cholesterol (LDL-C), with elevated triglycerides and depressed high-density lipoprotein cholesterol (HDL-C). Usual treatment includes a low fat diet and a statin drug. RESULTS: In an 18-year old with CESD, we documented compound heterozygosity for two LIPA mutations: a novel frameshift nonsense mutation and a deletion of exon 8. The patient had been treated with escalating doses of lovastatin for approximately 80 months, with approximately 15% decline in mean LDL-C. The addition of ezetimibe 10 mg to lovastatin 40 mg resulted in an additional approximately 16% decline in mean LDL-C. CONCLUSION: These preliminary anecdotal findings in a CESD patient with novel LIPA mutations support the longer term safety of statins in an adolescent patient and provide new data about the potential efficacy and tolerability of ezetimibe in this patient group.  (+info)

The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy. (6/20)

Lysosomal acid lipase (LAL) is the critical enzyme for the hydrolysis of triglycerides (TGs) and cholesteryl esters (CEs) in lysosomes. LAL defects cause Wolman disease (WD) and CE storage disease (CESD). An LAL null (lal-/-) mouse model closely mimics human WD/CESD, with hepatocellular, Kupffer cell and other macrophage, and adrenal cortical storage of CEs and TGs. The effect on the cellular targeting of high-mannose and complex oligosaccharide-type oligosaccharide chains was tested with human LAL expressed in Pichia pastoris (phLAL) and CHO cells (chLAL), respectively. Only chLAL was internalized by cultured fibroblasts, whereas both chLAL and phLAL were taken up by macrophage mannose receptor (MMR)-positive J774E cells. After intraperitoneal injection into lal-/- mice, phLAL and chLAL distributed to macrophages and macrophage-derived cells of various organs. chLAL was also detected in hepatocytes. Ten injections of either enzyme over 30 d into 2- and 2.5-mo-old lal-/- mice produced normalization of hepatic color, decreased liver weight (50%-58%), and diminished hepatic cholesterol and TG storage. Lipid accumulations in macrophages were diminished with either enzyme. Only chLAL cleared lipids in hepatocytes. Mice double homozygous for the LAL and MMR deficiences (lal-/-;MMR-/-) showed phLAL uptake into Kupffer cells and hepatocytes, reversal of macrophage histopathology and lipid storage in all tissues, and clearance of hepatocytes. These results implicate MMR-independent and mannose 6-phosphate receptor-independent pathways in phLAL uptake and delivery to lysosomes in vivo. In addition, these studies show specific cellular targeting and physiologic effects of differentially oligosaccharide-modified human LALs mediated by MMR and that lysosomal targeting of mannose-terminated glycoproteins occurs and storage can be eliminated effectively without MMR.  (+info)

Cholesteryl ester storage disease in a young child presenting as isolated hepatomegaly treated with simvastatin. (7/20)

Cholesteryl ester storage disease (CESD) is an autosomal recessive disorder resulting from lysosomal acid lipase deficiency and is usually characterized by hepatomegaly and hyperlipidemia. This paper reports a two-year-old boy who had hepatosplenomegaly, hyperlipidemia and hypertransaminasemia determined incidentally. The liver biopsy sample was orange-yellow in appearance. Microscopically, microvesicular steatosis and birefringent crystals were seen in liver biopsy. The diagnosis of CESD was confirmed by the reduced human acid lipase activity in peripheral leukocytes. Simvastatin therapy was given and tolerated without side effects. Our patient is the youngest reported case in the literature treated with 3-hydroxy 3-methyl glutaryl (HMG) CoA reductase inhibitor.  (+info)

Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease. (8/20)

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Non-alcoholic fatty liver disease (NAFLD) is a world-wide problem with a global prevalence estimated at 1.5 billion people. It is characterised by significant diversity and phenotypic heterogeneity. Morbidity rates are estimated at 20% to 30% in Western adults, increasing to 90% in patients who are morbidly obese or diabetic. Risk factors in non-obese NAFLD patients are of especial practical and theoretical importance. Cholesterol Ester Storage Disease (CESD) is an autosomal recessive chronic disease of variable phenotype, caused by a deficiency in lysosomal acid lipase (LAL) and characterized by accumulation of fat in tissues and organs. Hepatic accumulation of fat in this disorder can cause hepatomegaly with varying degrees of damage varying from steatosis to fibrosis, elevated aminotransaminases, and isolated splenomegaly. Since the contribution of LAL deficiency to non-obese NAFLD is poorly understood, the investigators propose to evaluating the association between NAFLD and LAL deficiency ...
Hoffman EP, Murray MF, Giovanni MA. Hoffman E.P., Murray M.F., Giovanni M.A. Hoffman, Erin P., et al.Cholesteryl Ester Storage Disease. In: Murray MF, Babyatsky MW, Giovanni MA, Alkuraya FS, Stewart DR. Murray M.F., Babyatsky M.W., Giovanni M.A., Alkuraya F.S., Stewart D.R. Eds. Michael F. Murray, et al.eds. Clinical Genomics: Practical Applications in Adult Patient Care, 1e New York, NY: McGraw-Hill; 2014. http://accessmedicine.mhmedical.com/content.aspx?bookid=1094§ionid=61904261. Accessed January 20, 2018 ...
Lysosomal Acid Lipase deficiency (LAL D) is lysosomal metabolic genetic disease caused by mutation in LIPA gene which encodes for the LAL enzyme. It characterised by multiorganic damage, mostly liver and spleen connected with lipid accumulation. In children it could progress very fast resulting liver cirrhosis and possibly death.. We have observed case of LAL D child for 16 years (from 1,6 y.o. till now 17 y.o.) with fast progression of the disease to liver cirrhosis. Girl was born in 1998 in healthy family with consanguineous parents. At age of 10 month hepatomegaly was revealed, examinations were not performed. In 1,2 year was admitted to the hospital for the first time hepatosplenomegaly (liver+6 cm, spleen+5 cm), anaemia, cytolysis (transaminase increase ALT up to 4N, AST up to 2N), hypercholesterolemia (9,7 mmol/L), triglyceridemia (2,3 mmol/L) were found. Diseases such as thalassemia, viral hepatitis, prenatal infections, metabolic disorders were excluded. Lysosomal acid lipase (LAL) ...
The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolmans xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE ...
TY - JOUR. T1 - Restoration of a regulatory response to low density lipoprotein in acid lipase deficient human fibroblasts. AU - Brown, M. S.. AU - Sobhani, M. K.. AU - Brunschede, G. Y.. AU - Goldstein, J. L.. PY - 1976. Y1 - 1976. N2 - Previous studies have shown that cultured fibroblasts derived from patients with genetic defects in lysosomal acid lipase (i.e. the Wolman Syndrome and Cholesteryl Ester Storage Disease) are defective in their ability to hydrolyze the cholesteryl esters contained in plasma low density lipoprotein (LDL). As a result, these mutant cells show a reduced responsiveness to the regulatory actions of LDL, as evidenced by a decreased LDL mediated suppression of the activity of 3 hydroxy 3 methylglutaryl coenzyme A reductase and by a decreased LDL mediated activation of cellular cholesteryl ester formation. In the current studies, the Wolman Syndrome and Cholesteryl Ester Storage Disease cells were grown in the same Petri dish with mutant fibroblasts derived from a ...
Cholesteryl ester, a dietary lipid, is an ester of cholesterol. The ester bond is formed between the carboxylate group of a fatty acid and the hydroxyl group of cholesterol. Cholesteryl esters have a lower solubility in water due to their increased hydrophobicity. Esters are formed by replacing at least one -OH (hydroxyl) group with an -O-alkyl (alkoxy) group. They are hydrolyzed by pancreatic enzymes, cholesterol esterase, to produce cholesterol and free fatty acids. They are associated with atherosclerosis. Cholesterylester transfer protein Cholesteryl ester storage disease Acyl CoA Cholesteryl Acyl Transferase (ACAT) Lecithin-cholesterol acyltransferase (LCAT) Ferrier, Richard A. Harvey, Denise R. (2011). Lippincotts illustrated reviews, biochemistry (5th ed.). Philadelphia: Wolters Kluwer Health. p. 175. ISBN 9781608314126. Cholesterol Esters at the US National Library of Medicine Medical Subject Headings (MeSH ...
Late Onset LAL Deficiency (CESD) Literature Review Published in the Journal of Hepatology LEXINGTON, Mass.--(BUSINESS WIRE)-- Synageva BioPharma Corp. (Synageva) (NAS: GEVA) , a clinical stage
Global Lysosomal Acid Lipase Deficiency (LAAL) Treatment Market Professional Survey Report 2018 1 Industry Overview of Lysosomal Acid Lipase Deficiency (LAAL) Treatment 1.1 Definition and Specifications of Lysosomal Acid Lipase Deficiency (LAAL) Treatment 1.1.1 Definition of Lysosomal Acid Lipase Deficiency (LAAL) Treatment 1.1.2 Specifications of Lysosomal Acid Lipase Deficiency (LAAL) Treatment 1.2 Classification of Lysosomal Acid Lipase Deficiency (LAAL) Treatment 1.2.1 Enzyme Replacement Therapy 1.2.2 Kidney Transplantation 1.2.3 Stem Cell Transplantation 1.3 Applications of Lysosomal Acid Lipase Deficiency (LAAL) Treatment 1.3.1 Wolman Disease 1.3.2 Cholesterol Ester Storage Disease (CESD) 1.3.3 Application 3 1.4 Market Segment by Regions 1.4.1 North America 1.4.2 China 1.4.3 Europe 1.4.4 Southeast Asia 1.4.5 Japan 1.4.6 India 2 Manufacturing Cost Structure Analysis of Lysosomal Acid Lipase Deficiency (LAAL) Treatment 2.1 Raw Material and Suppliers 2.2 Manufacturing Cost Structure Analysis ...
Lysosomal Acid Lipase Deficiency (LALD) is a genetic disease which is characterized by abnormal lipid accumulation in many parts of the body due to a marked decrease in activity of the enzyme lysosomal acid lipase (LAL). Although a single disease, LALD presents with two major forms: early onset and late onset. Early onset LALD, also known as Wolman Disease, is characterized by severe malabsorption, growth failure, and hepatic failure and is usually fatal within the first year of life.. The late onset form of the disease, also known as Cholesteryl Ester Storage Disease (CESD), occurs in both children and adults and is an under-appreciated cause of fatty liver with prominent microvesicular steatosis and cirrhosis. Although the natural history of the disease has not been well studied, serious liver complications are frequently described including early death and liver transplantation. Other complications includes premature atherosclerosis (hardening of arteries) associated with high levels of total ...
Lysosomal Acid Lipase (LAL) Deficiency Treatment Market report categorizes global market by Therapy Type (Liver Transplant and Hematopoietic Stem Cell Transplant), By Drug Type (Statins and Other Dyslipidemia Drugs and Sebelipase Alfa (Kanuma)), By Disease Indication (Wolman Disease and Cholesteryl Ester Storage Disease (CESD)), and By Geography - Global Industry Insights, Trends, Outlook, and Opportunity Analysis, 2025
Lysosomal acid lipase (LAL) is a lysosomal enzyme that is involved in intracellular lipid metabolism. Complete deficiency of the LAL enzyme causes Wolman disease, while reduced but residual LAL activity (approximately 2%-8% of controls in blood leukocytes) causes cholesteryl ester storage disease (CESD). Wolman disease is fatal within the first year of life due to severe hepatomegaly, persistent diarrhea and failure to thrive. CESD is a milder disease that is characterized by hyperlipidemia and hepatomegaly that can be observed in childhood or develop in adulthood. Several CESD patients with no typical clinical symptoms or with only mild liver enlargement even at an advanced age have also been reported. In general, CESD is not associated with a reduced life span although atherosclerosis and chronic liver disease have been identified as a premature cause of death. The incidence of CESD in the general population is not known but has been estimated at approximately 2.5 per 100,000, while Woman ...
Lysosomal Acid Lipase Deficiency is a rare, inherited disorder affecting the bodys ability to produce the enzyme lysosomal acid. Learn about LALD at ALF.
Learn about Alexions products including Kanuma® (sebelipase alfa), an enzyme treatment for lysosomal acid lipase deficiency (LAL-D).
KANUMA is a hydrolytic lysosomal cholesteryl ester and triacylglycerol-specific enzyme indicated for the treatment of patients with a diagnosis of Lysosomal Acid Lipase (LAL) deficiency.
It is important to monitor disease progression in patients with LAL-D. Historical supportive care does not address the underlying cause.
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The U.S. Food & Drug Administration announced Dec. 8 that it has approved Kanuma (sebelipase alfa) as the first treatment for patients with a rare disease known as lysosomal acid lipase (LAL) deficiency.. Patients with LAL deficiency, also known as Wolman disease, have no or little LAL enzyme activity, which results in a build-up of fats within the cells of various tissues that can lead to liver and cardiovascular disease and other complications.. The approval involved approvals from two centers at FDA. The Center for Veterinary Medicine (CVM) approved an application for a recombinant DNA (rDNA) construct in chickens that are genetically engineered (GE) to produce a recombinant form of human lysosomal acid lipase (rhLAL) protein in their egg whites. FDA regulates GE animals under the new animal drug provisions of the Federal Food, Drug, & Cosmetic Act, because an rDNA construct introduced into an animal to change its structure or function meets the definition of a drug.. The Center for Drug ...
Rebaudioside affords hepatoprotection ameliorating sugar sweetened beverage- induced nonalcoholic steatohepatitis Sci Rep. 2020 Apr 21; 10(1):6689. . View in PubMed. Hepatic deficiency of augmenter of liver regeneration predisposes to nonalcoholic steatohepatitis and fibrosis Hepatology. 2020 Feb 07. . View in PubMed. Initial assessment and ongoing monitoring of lysosomal acid lipase deficiency in children and adults: Consensus recommendations from an international collaborative working group Mol Genet Metab. 2020 02; 129(2):59-66. . View in PubMed. Designing Clinical Trials in Pediatric Nonalcoholic Steatohepatitis: Tips for Patient Selection and Appropriate Endpoints Hepatol Commun. 2019 Dec; 3(12):1563-1570. . View in PubMed. Severe Late-Onset Acute Cellular Rejection in a Pediatric Patient With Isolated Small Intestinal Transplant Rescued With Aggressive Immunosuppressive Approach: A Case Report Transplant Proc. 2019 Nov; 51(9):3181-3185. . View in PubMed. Immunologic benefit of maternal ...
Video Presentations Lysosomal acid lipase deficiency: An under-diagnosed cause of liver dysfunction Presented by Irene De Biase, MD, PhD. Streaming video. Non-Invasive Prenatal Testing (NIPT) Using Cell-Free Fetal DNA for Prenatal Assessment Presented by Edward R. Ashwood, MD. Streaming video.
Sebelipase alfa is a copy of an enzyme that is normally produced in the body to help break down fats and keep them from building up in your cells. Sebelipase alfa is used to treat lysosomal acid lipase deficiency. This is a life-threatening genetic disorder that can damage major organs in the body and lead to early...
Burton BK, Balwani M, Feillet F, Baric I, Burrow TA, Camarena Grande C, Coker M, Consuelo-Sánchez A, Deegan P, Di Rocco M, Enns GM, Erbe RW, Ezqu F, Ficicioglu C, Furuya KN, Kane J, Laukaitis C, Mengel E, Neilan EG, Nightingale S, Peters H, Scarpa M, Schwab KO, Smolka V, Valayannopoulos V, Wood M, Goodman Z, Yang Y, Eckert S, Rojas-Caro S, Quinn AG. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med. 2015; 373(11 ...
Wolman disease information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Synageva BioPharma Corp. (Synageva) (NASDAQ:GEVA), a biopharmaceutical company developing therapeutic products for rare diseases, today announced the publication of an overview of lysosomal acid lipase ......GEVA
US regulators have issued a green light for Alexions long-term enzyme replacement therapy Kanuma, giving patients with the ultra rare genetic disorder lysosomal acid lipase deficiency access to a targeted treatment for the first time. - News - PharmaTimes
The European Medicines Agency has recommended for approval ten new medicines, including treatments for cancer and rare diseases.. First up, two enzyme replacement therapies for the treatment of rare genetic diseases: Kanuma (sebelipase alfa) for the treatment of lysosomal acid lipase deficiency, and Strensiq (asfotase alfa), the first therapy for the bone disease hypophosphatasia that started in childhood. Both drugs are manufactured by rare disease specialist Alexion - Kanuma was originally developed by Synageva, but the firm was acquired by Alexion last month, giving the US company an early boost from its purchase.. David Hallal, CEO of Alexion, said: "The CHMP positive opinions for Strensiq and Kanuma are significant milestones in bringing these therapies to infants, children, and adults suffering from HPP and LAL-d in Europe. "Both Strensiq and Kanuma are highly innovative enzyme replacement therapies that, if approved, will be the first treatments available for patients with HPP and LAL-d, ...
Data Collection Notes: The Resource Book of the Hispanic Established Populations for Epidemiologic Studies of the Elderly may be obtained from earlier Hispanic EPESE collections (i.e., ICPSR 4314, 4102, 3385, 2851).. Users of these data should note when doing analyses -- the scales for the following items should be reversed: X6CESD4, X6CESD8, X6CESD12, AND X6CESD16.. Hispanic EPESE, 1993-1994 (ICPSR 2851), was modeled after the design of -- ESTABLISHED POPULATIONS FOR EPIDEMIOLOGIC STUDIES OF THE ELDERLY, 1981-1993: [EAST BOSTON, MASSACHUSETTS, IOWA AND WASHINGTON COUNTIES, IOWA, NEW HAVEN, CONNECTICUT, AND NORTH CENTRAL NORTH CAROLINA] (ICPSR 9915) and ESTABLISHED POPULATIONS FOR EPIDEMIOLOGIC STUDIES OF THE ELDERLY, 1996-1997: PIEDMONT HEALTH SURVEY OF THE ELDERLY, FOURTH IN-PERSON SURVEY [DURHAM, WARREN, VANCE, GRANVILLE, AND FRANKLIN COUNTIES, NORTH CAROLINA] (ICPSR 2744).. The first follow-up of the baseline data (Hispanic EPESE Wave II, 1995-1996 [ICPSR 3385]) followed 2,438 of the ...
Data Collection Notes: The Resource Book of the Hispanic Established Populations for Epidemiologic Studies of the Elderly may be obtained from earlier Hispanic EPESE collections (i.e., ICPSR 4314, 4102, 3385, 2851).. Users of these data should note when doing analyses -- the scales for the following items should be reversed: X6CESD4, X6CESD8, X6CESD12, AND X6CESD16.. Hispanic EPESE, 1993-1994 (ICPSR 2851), was modeled after the design of -- ESTABLISHED POPULATIONS FOR EPIDEMIOLOGIC STUDIES OF THE ELDERLY, 1981-1993: [EAST BOSTON, MASSACHUSETTS, IOWA AND WASHINGTON COUNTIES, IOWA, NEW HAVEN, CONNECTICUT, AND NORTH CENTRAL NORTH CAROLINA] (ICPSR 9915) and ESTABLISHED POPULATIONS FOR EPIDEMIOLOGIC STUDIES OF THE ELDERLY, 1996-1997: PIEDMONT HEALTH SURVEY OF THE ELDERLY, FOURTH IN-PERSON SURVEY [DURHAM, WARREN, VANCE, GRANVILLE, AND FRANKLIN COUNTIES, NORTH CAROLINA] (ICPSR 2744).. The first follow-up of the baseline data (Hispanic EPESE Wave II, 1995-1996 [ICPSR 3385]) followed 2,438 of the ...
Find out what Lal Kitab horoscope 2017 forecast bring for you this year! Behold this extensive 2017 astrological prognostication for your zodiac and plan your year ahead.
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In this video you will receive teachings and blessings to transform liver conditions including its manifestation in these forms: fatty liver, liver disease, liver cancer, alcoholism, Alagille Syndrome, Alpha 1 Anti-Trypsin Deficiency, Autoimmune Hepatitis, Biliary Atresia, Cirrhosis and Complications, Cystic Disease of the Liver,Fatty Liver Disease, Galactosemia, Gallstones, Gilberts Syndrome, Hemochromatosis, Liver Cancer, Liver disease in pregnancy, Lysosomal Acid Lipase Deficiency (LALD),Neonatal Hepatitis, Primary Biliary Cholangitis, Primary Biliary Cirrhosis, Primary Sclerosing Cholangitis, Porphyria, Reyes Syndrome, Sarcoidosis, Toxic Hepatitis, Type 1 Glycogen Storage Disease, Tyrosinemia, Viral Hepatitis A, B, C, Hepatitis B,Hepatitis A, Hepatitis C, Wilson Disease, Liver Transplants, Operations, Surgery, and other related conditions. You may receive insight or answers to the following types of questions: "Why am I so angry? How can I heal my anger? How can I heal my liver? With a lot ...
Moshe Wolman (November 10, 1914 - September 5, 2009) was an Israeli neuropathologist. He is considered one of the fathers of histochemistry.[citation needed] In 1954, he described Wolmans disease. Moshe Wolman was born in 1914 in Warsaw, Poland. He immigrated to Mandate Palestine in 1925. He grew up in Tel Aviv and graduated from the prestigious Herzliya Gymnasium (academic secondary school). He studied medicine in Italy (Florence 1932-1935 and Rome, 1935-1938). In 1939, he married Brigitte "Bigi" Koebbel with whom he had four children: filmmaker Dan Wolman, philosopher Ruth Manor (1944-2005), psychiatrist Naomi Oren, and composer Amnon Wolman. From 1938 to 1940, he worked in the Cancer Research Institute of the Hebrew University and did residency at the department of Internal Medicine of the Hadassah Hospital. In the 1940s, he volunteered to serve in the British Army and joined the 101 Military Mission (the famous Gideon Force of Orde Wingate). He was involved in the operation in 1941 that ...
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McSweeney ME Garwood S Levin J Marino MR Wang SX Kardatzke D Mangano DT Wolman RL Investigators of the Ischemia Research and Education Foundation. Multicenter Study of Perioperative Ischemia Research Group. Adverse gastrointestinal complications after cardiopulmonary bypass: can outcome be predicted from preoperative risk factors? Anesth Analg . 2004 Jun;98(6):1610-7, table of contents ...
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Copper storage disease, most often seen in dogs, cause changes in the liver that trap dietary copper, and can be subclinical, acute or chronic and progressive.
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The efficacy of PRD125 in blunting the continual expansion of the intestinal and hepatic pools of EC in Lal−/− mice is best illustrated by comparing the data for the treated mutants with those previously reported for Lal−/−:Soat2−/− mice (Lopez et al., 2014). In those studies, the hepatic EC concentrations in the Lal−/−:Soat2−/− mice versus their Lal−/−:Soat2+/+ littermates, all at 52 days of age, were 15.2 versus 54.3 mg/g, respectively. The corresponding values for LAL mutants given PRD125 versus their untreated Lal−/− mice controls were 23.4 and 56.5 mg/g, respectively (Fig. 3C). In the Lal−/− mice given PRD125, liver mass was 28% less than that in the untreated Lal−/− mice (Fig. 3A). This marked contraction in liver weight was comparable to that manifested in the Lal−/−:Soat2−/− mice (34%) (Lopez et al., 2014). From these sets of data, it can be calculated that the percentage reduction in whole liver cholesterol content (mg/organ) in the ...
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His group identified Tangier disease (HDL deficiency) and cholesteryl ester storage disease, two inborn errors of cholesterol ... Tangier disease. Ann Intern Med 1961;55:1016-1031. Fredrickson, DS; Levy, RI; Lees, RS (1967). "Fat transport in lipoproteins-- ... He participated in the genetic elucidation of Tangier disease, which he had himself described in the 1960s. He was personal ... Subsequently he spent a year in the laboratory of Ivan Frantz, a cholesterol biochemist, at Massachusetts General Hospital. In ...
... jaundice renal tubular insufficiency Cholesterol ester storage disease Cholesterol esterification disorder Cholesterol ... Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease ... Marie-Tooth disease type 2C Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease ... d Charcot disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease deafness dominant type Charcot-Marie-Tooth disease ...
Wolman disease and Cholesteryl ester storage disease are both autosomal recessive diseases. Wolman disease in predominantly ... These fatty substances, called lipids, include waxes, oils, and cholesterol. Three rare lipid storage diseases are caused by ... In both Wolman disease and Cholesteryl ester storage disease there is a deficiency of lysosomal acid lipase which causes an ... Wolman Disease and Cholesteryl ester storage disease are both diagnosed by observation of previous medical history and symptoms ...
"Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease". Journal of ... it breaks down cholesteryl esters and triglycerides in low density lipoprotein particles into free cholesterol and free fatty ... Redirected from Cholesteryl ester storage disease). Lysosomal acid lipase deficiency (LAL deficiency or LAL-D), also known as ... Cholesteryl Ester Storage Disease, presenting in pediatric and adult patients. Around 2010 both presentations have come to be ...
Cholesterylester transfer protein Cholesteryl ester storage disease Acyl CoA Cholesteryl Acyl Transferase (ACAT) Lecithin- ... Cholesteryl ester, a dietary lipid, is an ester of cholesterol. The ester bond is formed between the carboxylate group of a ... Cholesterol Esters at the US National Library of Medicine Medical Subject Headings (MeSH). ... Cholesteryl esters have a lower solubility in water due to their increased hydrophobicity. Esters are formed by replacing at ...
... cholesterol ester storage disease MeSH C18.452.648.595.554 --- lysosomal storage diseases, nervous system MeSH C18.452.648.595. ... tangier disease MeSH C18.452.648.556.641 --- lipoidosis MeSH C18.452.648.556.641.201 --- cholesterol ester storage disease MeSH ... glycogen storage disease type i MeSH C18.452.648.202.449.500 --- glycogen storage disease type ii MeSH C18.452.648.202.449.510 ... glycogen storage disease type iv MeSH C18.452.648.202.449.560 --- glycogen storage disease type v MeSH C18.452.648.202.449.580 ...
... cholesterol ester storage disease MeSH C16.320.565.580.554 --- lysosomal storage diseases, nervous system MeSH C16.320.565.580. ... tangier disease MeSH C16.320.565.556.641 --- lipoidosis MeSH C16.320.565.556.641.201 --- cholesterol ester storage disease MeSH ... glycogen storage disease type i MeSH C16.320.565.202.449.500 --- glycogen storage disease type ii MeSH C16.320.565.202.449.510 ... glycogen storage disease type iv MeSH C16.320.565.202.449.560 --- glycogen storage disease type v MeSH C16.320.565.202.449.580 ...
Cholesteryl ester storage disease) Secondary combined hyperlipoproteinemia (usually in the context of metabolic syndrome, for ... HLPIIa is a rare genetic disorder characterized by increased levels of LDL cholesterol in the blood due to the lack of uptake ( ... and premature cardiovascular disease. The incidence of this disease is about one in 500 for heterozygotes, and one in 1,000,000 ... It is characterized by the early onset of cardiovascular disease and peripheral vascular disease. Remnant hyperlipidemia occurs ...
"Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease". Journal of ... it breaks down cholesteryl esters and triglycerides in low density lipoprotein particles into free cholesterol and free fatty ... Wolman disease, presenting in infant patients Cholesteryl Ester Storage Disease, presenting in pediatric and adult patients ... It is an inborn error of metabolism that causes a lysosomal storage disease. The condition is caused by a mutation of the LIPA ...
Under normal storage and food preparation conditions, plant stanol esters are very stable because they are more resistant to ... Stanols displace cholesterol from these micelles so that less cholesterol is absorbed. Stanols need to be taken as part of a ... Furthermore, several epidemiological studies have shown that the risk of developing heart disease seems to be increased even at ... If long-term storage is required, plant stanol esters are typically refrigerated in solid form. Furthermore, the usual ...
Asymmetric dimethylarginine Cardiovascular disease Cholesteryl ester storage disease Endothelium Lipid profile Low-density ... a high level of serum cholesterol is an indicator for diseases such as heart disease. About 20-25% of total daily cholesterol ... "National Reference System for Cholesterol - Cholesterol Reference Method Laboratory Network - HDL Cholesterol Certification ... converts the free cholesterol into cholesteryl ester (a more hydrophobic form of cholesterol), which is then sequestered into ...
... which converts retinol into Retinyl esters (the storage forms of vitamin A). Vitamin E may alleviate hypervitaminosis A. Liver ... Possible pregnancy, liver disease, high alcohol consumption, and smoking are indications for close monitoring and limitation of ... bone X-rays blood calcium test cholesterol test liver function test blood test for vitamin A Assessing vitamin A status in ... This increased retinyl ester may be due to decreased hepatic uptake of vitamin A and the leaking of esters into the bloodstream ...
Lysosomal acid lipase deficiency or Cholesteryl ester storage disease Certain medications e.g. isotretinoin, estrogen, ... high cholesterol levels), and predispose to cardiovascular disease. Very high triglyceride levels also increase the risk of ... Systemic Lupus Erythematosus and associated autoimmune responses Glycogen storage disease type 1. Propofol HIV medications In ... As of 2006, the prevalence of hypertriglyceridemia in the United States was 30%. Remnant cholesterol Berglund L, Brunzell JD, ...
... resulting in a decrease in storage triglycerides and other esters of fatty acids. This reduces liver fat (including ... Aramchol activates cholesterol efflux by stimulating (2 to 4-fold) the ABCA1 transporter, a universal cholesterol export pump ... "Update on new treatments for liver diseases". Sciencedaily.com. Retrieved 7 January 2015. Gilat, T., Somjen G.J., et al. (2001 ... In animal models, this led to a significant reduction of blood and body cholesterol and an increase in fecal sterol output, ...
... good cholesterol) to total cholesterol ratio. The ester isopropyl myristate is used in cosmetic and topical medicinal ... Dietary saturated and transfatty acids and cholesterol and 25-year mortality from coronary heart disease: the seven countries ... for Thermal Energy Storage in Building Material Applications" (PDF). University Putra Malaysia. Retrieved 17 June 2014. Lide, ... Its salts and esters are commonly referred to as myristates. It is named after the binomial name for nutmeg (Myristica fragrans ...
... affecting the total/LDL serum cholesterol ratio found in 2003 that the net effects of lauric acid on coronary artery disease ... The salts and esters of lauric acid are known as laurates. Lauric acid, as a component of triglycerides, comprises about half ... for thermal energy storage in building material applications" (PDF). University Putra Malaysia. Archived from the original (PDF ... ISBN 978-3-540-22569-0. Effects of dietary fatty acids and carbohydrates on the ratio of serum total to HDL cholesterol and on ...
Then these lipids (i.e. triacylglycerols, phospholipids, cholesterol, and cholesteryl esters) are assembled with apolipoprotein ... Atherosclerosis is the leading cause of coronary artery disease, which is the leading cause of mortality in the world. Since ... Glycerol and fatty acids can then be absorbed in peripheral tissues, especially adipose and muscle, for energy and storage. The ... They also produce the bile from cholesterol. The intestines are responsible for absorbing cholesterol. They transfer it over ...
Alox15 can metabolize polyunsaturated fatty acids that are esterified to phospholipids and cholesterol (i.e. cholesterol esters ... Inactivating mutations in ALOX3 are also associated with the human disease Lamellar ichthyosis, type 5 (see Ichthyosis#Types# ... proceed to release these fatty acids from their storage sites, and thereby are key regulators in the formation of lipoxygenase- ... ALox12e prefers methyl esters over non-esterfied polyunsaturated fatty acid substrates, metabolizing linoleic acid ester to its ...
The main source is through dietary cholesterol transported via the blood as cholesterol esters within low density lipoproteins ... Congenital adrenal hyperplasia is a genetic disease produced by dysregulation of endocrine control mechanisms.[4][6] A variety ... When activated, it evokes the release of catecholamines from the storage granules by stimulating the opening of calcium ... cholesterol esters are converted to free cholesterol, which is then used for steroidogenesis or stored in the cell.[29] ...
In the lysosome, cholesterol esters are converted to free cholesterol, which is then used for steroidogenesis or stored in the ... Diseases classified as primary adrenal insufficiency (including Addison's disease and genetic causes) directly affect the ... When activated, it evokes the release of catecholamines from the storage granules by stimulating the opening of calcium ... The main source is through dietary cholesterol transported via the blood as cholesterol esters within low density lipoproteins ...
The role of lipid droplets outside of lipid and cholesterol storage has recently begun to be elucidated and includes a close ... Lipid droplets are composed of a neutral lipid core consisting mainly of triacylglycerols (TAGs) and cholesteryl esters ... "The role of lipid droplets in metabolic disease in rodents and humans". Journal of Clinical Investigation. 121 (6): 2102-2110. ... In non-adipocytes, lipid droplets are known to play a role in protection from lipotoxicity by storage of fatty acids in the ...
23 g) of olive oil daily may reduce the risk of coronary heart disease due to the monounsaturated fat in olive oil. To achieve ... F. R. Riley, "Olive Oil Production on Bronze Age Crete: Nutritional properties, Processing methods, and Storage life of Minoan ... Olive oil contains phenolics, such as esters of tyrosol, hydroxytyrosol, oleocanthal and oleuropein, give extra virgin olive ... normal blood HDL-cholesterol concentrations, and normal blood glucose concentrations. A 2011 meta-analysis concluded that olive ...
M. tuberculosis can also grow on the lipid cholesterol as a sole source of carbon, and genes involved in the cholesterol use ... Goh KI, Cusick ME, Valle D, Childs B, Vidal M, Barabási AL (May 2007). "The human disease network". Proc. Natl. Acad. Sci. U.S. ... Proteins are made from amino acids that have been activated by attachment to a transfer RNA molecule through an ester bond. ... Nucleic acids are critical for the storage and use of genetic information, and its interpretation through the processes of ...
Starch (a polymer of glucose) is used as a storage polysaccharide in plants, being found in the form of both amylose and the ... p.23 ISBN 0-8053-1957-3 "Dietary Reference Intakes for Energy, Carbohydrate, fiber, Fat, Fatty Acids, Cholesterol, Protein, and ... Acidic polysaccharides are polysaccharides that contain carboxyl groups, phosphate groups and/or sulfuric ester groups. ... and is responsible for the mucoid phenotype of late-stage cystic fibrosis disease. The pel and psl loci are two recently ...
... which converts retinol into Retinyl esters (the storage forms of vitamin A). ... Possible pregnancy, liver disease, high alcohol consumption, and smoking are indications for close monitoring and limitation of ... cholesterol test. *liver function test. *blood test for vitamin A. Relevance of blood testsEdit. Retinol concentrations are ... Retinol esters have been used as markersEdit. Retinyl esters can be distinguished from retinol in serum and other tissues and ...
Foodborne and infectious diseases can result in malnutrition, and malnutrition exacerbates infectious disease. Poor nutrition ... The vicious cycle is putatively fuelled by continuously high insulin/leptin stimulation and fat storage, as a result of high ... Haque, ZU; Mozaffar Z. (1992). "Importance of dietary cholesterol for the maturation of mouse brain myelin". Biosci Biotechnol ... Soluble dietary fiber comprises a variety of oligosaccharides, waxes, esters, resistant starches, and other carbohydrates that ...
cardiovascular disease, cancer Cholesterol during development: deficiencies in myelinization of the brain; demyelination of the ... The vicious cycle is putatively fuelled by continuously high insulin/leptin stimulation and fat storage, as a result of high ... Comprises a variety of oligosaccharides, waxes, esters, resistant starches, and other carbohydrates that dissolve or gelatinize ... DiseaseEdit. The most common non-infectious diseases worldwide, that contribute most to the global mortality rate, are ...
AAS use can cause harmful changes in cholesterol levels: Some steroids cause an increase in LDL "bad" cholesterol and a ... AAS such as testosterone also increase the risk of cardiovascular disease or coronary artery disease. Acne is fairly common ... The AAS that have been used most commonly in medicine are testosterone and its many esters (but most typically testosterone ... AAS also affect the number of cells that develop into fat-storage cells, by favouring cellular differentiation into muscle ...
Metabolic Diseases. Wolman Disease. Cholesterol Ester Storage Disease. Digestive System Diseases. Genetic Diseases, Inborn. ... Cholesterol Ester Storage Disease (CESD) is an autosomal recessive chronic disease of variable phenotype, caused by a ... Genetic and Rare Diseases Information Center resources: Visceral Steatosis Wolman Disease Cholesteryl Ester Storage Disease ... Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver ...
Condition or disease Intervention/treatment Phase Cholesterol Ester Storage Disease (CESD) Lysosomal Acid Lipase Deficiency ... Wolman Disease. Cholesterol Ester Storage Disease. Lipidoses. Lipid Metabolism, Inborn Errors. Metabolism, Inborn Errors. ... Genetic and Rare Diseases Information Center resources: Wolman Disease Cholesteryl Ester Storage Disease Lysosomal Acid Lipase ... Genetic Diseases, Inborn. Lysosomal Storage Diseases. Infant, Newborn, Diseases. Lipid Metabolism Disorders. Metabolic Diseases ...
Figure Cholesterol Ester Storage Disease (CESD) Examples Table Major Consumers in Cholesterol Ester Storage Disease (CESD) ... Wolman Disease Cholesterol Ester Storage Disease (CESD) By Regions, this report covers (we can add the regions/countries as you ... 1.3.1 Wolman Disease 1.3.2 Cholesterol Ester Storage Disease (CESD) 1.3.3 Application 3 1.4 Market Segment by Regions 1.4.1 ... 7.3.2 Cholesterol Ester Storage Disease (CESD) of Lysosomal Acid Lipase Deficiency (LAAL) Treatment Growth Driving Factor ...
EMBL-EBI, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK +44 (0)1223 49 44 44. Copyright © EMBL-EBI 2013 , EBI is an outstation of the European Molecular Biology Laboratory , Privacy , Cookies , Terms of use. ...
Lysosomal acid lipase (LAL) activity was low due to which cholesterol ester storage disease was diagnosed. At age of 3 year ... where LAL activity in leucocytes was estimated and confirmed cholesterol ester storage disease. No special treatment was ... P230 Liver cirrhosis as outcome of cholesterol esters storage due to lysosomal acid lipase deficiency ... P230 Liver cirrhosis as outcome of cholesterol esters storage due to lysosomal acid lipase deficiency ...
cholesterol ester storage disease can also refer to... cholesterol ester storage disease ... cholesterol ester storage disease. in Oxford Dictionary of Biochemistry and Molecular Biology ... From: cholesterol ester storage disease in Oxford Dictionary of Biochemistry and Molecular Biology » ... Search for the text `cholesterol ester storage disease anywhere in Oxford Index » ...
cholesterol ester storage disease. Model name. Publication. Status. McAuley2012 - Whole-body Cholesterol Metabolism ( ... cholesterol ester storage disease. Model name. Publication. Status. McAuley2012 - Whole-body Cholesterol Metabolism ( ... Crohns disease. Model name. Publication. Status. Dwivedi2014 - Crohns IL6 Disease model - Anti-IL6 Antibody (BIOMD0000000535) ... Crohns disease. Model name. Publication. Status. Dwivedi2014 - Crohns IL6 Disease model - Anti-IL6 Antibody (BIOMD0000000535) ...
Wolmans Disease and Cholesterol Ester Storage Disease. Valk, Professor Dr. Jacob (et al.) ...
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Cholesteryl ester storage disease ... Cholesteryl ester storage disease Title Other Names:. CESD; Cholesterol ester hydrolase deficiency; Cholesterol ester storage ... Lysosomal Storage Disease: Wolman Disease and Cholesteryl Ester Storage Disease. Medscape Reference. December 9 2015; http:// ... Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Digestive Diseases; ...
... is a comprehensive reference source for the definition of terms related to cholesterol. A must-have resource for physicians and ... The FOCUS Animated Pocket Dictionary of Cholesterol, the first ever animated dictionary in the subject, ... Cholesterol absorption inhibitors. *Cholesterol ester storage disease. *Cholesterol. *Cholesterosis. *Cholesteryl ester ... The Animated Pocket Dictionary of Cholesterol. The Animated Pocket Dictionary of Cholesterol. Editor: Focus Medica. Publication ...
Senescent case of cholesterol ester storage disease that progressed to liver cirrhosis with a novel mutation (N250H) of ... Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G,A) in various racial and ethnic groups. ... effect and safety profile of recombinant human lysosomal acid lipase in patients With cholesteryl ester storage disease. ... Microbiota-liver axis in hepatic disease. Hepatology. Volume 59, Issue 1, January 2014, Pages: 328-339, Benoit Chassaing, Lucie ...
Chatrath H, Keilin S, Attar BM: Cholesterol ester storage disease (CESD) diagnosed in an asymptomatic adult. Dig Dis Sci. 2009 ... Most of the cholesterol consumed as a dietary lipid exists as cholesterol esters. Cholesterol esters have a lower solubility in ... Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. ... from diet or from genetic predisposition or from diseases such as hyperlipidemia) of cholesterol and cholesterol esters lead to ...
Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive ... Mendelian randomization of blood lipids for coronary heart disease Holmes, Michael V. ; Asselbergs, Folkert W. ; Palmer, Tom M. ... Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis. Nüesch, Eveline ; Dale, ... Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease Schunkert, Heribert ; Koenig ...
Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive ... Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease Schunkert, Heribert ; Koenig ...
Find out about the rarer genetic conditions that can cause high cholesterol levels including hypobetalipoproteinaemia and ... Lysosomal Acid Lipase Deficiency (also known as Cholesterol Ester Storage Disorder, Wolmans Disease or LAL deficiency) is a ... HDL or good cholesterol) in the blood. LDL cholesterol levels (bad cholesterol) can also be reduced, while triglyceride levels ... Physical signs of Tangier disease are mainly due to cholesterol deposits accumulating in characteristic places in the body. ...
His group identified Tangier disease (HDL deficiency) and cholesteryl ester storage disease, two inborn errors of cholesterol ... Tangier disease. Ann Intern Med 1961;55:1016-1031. Fredrickson, DS; Levy, RI; Lees, RS (1967). "Fat transport in lipoproteins-- ... He participated in the genetic elucidation of Tangier disease, which he had himself described in the 1960s. He was personal ... Subsequently he spent a year in the laboratory of Ivan Frantz, a cholesterol biochemist, at Massachusetts General Hospital. In ...
cholesterol ester storage disease 9.9. 30. fatty liver disease 9.9. Graphical network of the top 20 diseases related to ... Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Endocrine diseases Cardiovascular diseases See all ... The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z ... very high low-density lipoprotein (ldl) cholesterol (,400 mg/dl) high total cholesterol (,600 mg/dl) ...
Cholesterol Ester Storage Disease (CESD). This condition causes progressive liver damage due to the bodys inability to break ... We have developed methods to measure liver cholesterol ester content by a non-invasive MRI scan, allowing disease progression ... Non-alcoholic fatty liver disease (NAFLD) is now the most common cause of chronic liver disease world wide, affecting an ... down cholesterol esters, resulting in fat accumulation in hepatic tissues that disrupts cellular. Until recently the only ...
Treatment and liver transplantation for cholesterol ester storage disease. Leone, L., Ippoliti, P. F., Antonicelli, R., Balli, ... Randomized trial of the effects of low-dose calcium-heparin in patients with peripheral arterial disease and claudication. ... Vasopressin, prolactin and growth hormone in Alzheimers disease: their evaluation after metoclopramide stimulation. Lipponi, G ... Coronary Artery Disease. 16, 8, p. 489-493 5 p.. Research output: Contribution to journal › Article ...
Cholesterol ester storage disease (CESD). Cholesterol ester storage disease (CESD) is an autosomal recessive genetic disease ... Wolmans disease and cholesteryl ester storage disease. In: Stanbury JB et al., editors. Metabolic basis of inherited disease. ... Reynolds T. Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis ... Neutral lipid storage disease (NLSD). Neutral Lipid Storage Disease (NLSD) is a heterogenous group of rare autosomal recessive ...
... the storage diseases, produce inclusions or vacuoles in the tissues of affected individuals. The placenta is often similarly ... Desai, P.K., Astrin, K.H., Gordon, R.E., Thung, S., Strauss, L., and Desnick, R.J.: Cholesterol ester storage disease: prenatal ... Storage Disease Glycogen Storage Disease Type Neuronal Ceroid Lipofuscinosis Mucolipidosis Type Myelin Body These keywords were ... Chorionic villus ultrastructure in type II glycogen storage disease (Pompes disease). N. Engl. J. Med. 324: 342-343, 1991. ...
Lysosomal Storage Diseases (Lysosomal Enzyme Disorders) are inborn errors of metabolism characterized by specific lysosomal ... "Cholesterol Ester Storage Disease (Cholesteryl Ester Storage Disease)" Cholesterol Ester Storage Disease. In our body, the ... cholesterol ester storage disease *Wolman dis-ease *cystinosis *lysosomal storage dis-eases ++ *mannosidase deficiency dis- ... In our body, the dis-ease, Cholesterol Ester Storage Disease is the allopathic name, indicative to a specific set of signs, ...
... cholesterol ester storage disease, Wolman disease), acute fatty liver of pregnancy, HELLP syndrome, and medications (e.g., ... Hepatic: Most patients with non-alcoholic fatty liver disease are asymptomatic until the end stages of the disease. NAFLD ... Type 1 diabetes is associated with other autoimmune disorders (e.g., celiac disease, Addisons disease) which commonly cause ... All causes of malabsorption should be considered in the differential, including celiac disease, inflammatory bowel disease, and ...
CESD - Cholesterol ester storage disease Current Synonym true false 95170015 Cholesterol ester storage disease Current Synonym ... Cholesterol ester storage disease (disorder). Code System Preferred Concept Name. Cholesterol ester storage disease (disorder) ...
Fish-Eye Disease, Apolipoprotein A-I Deficiency. Check the full list of possible causes and conditions now! Talk to our Chatbot ... Cholesterol Ester Storage Disease More than 70 different mutations have been identified and appear to result in absence of LCAT ... Differential Diagnosis Familial LCAT Deficiency Fish Eye Disease Homozygous Tangier Disease Heterozygous Tangier Disease Apo A1 ... Mutations in the LCAT (LCAT deficiency, Fish Eye Disease) or ABCA1 gene (Tangier disease) may also be causal for HDL deficiency ...
  • Early onset LALD, also known as Wolman Disease, is characterized by severe malabsorption, growth failure, and hepatic failure and is usually fatal within the first year of life. (clinicaltrials.gov)
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