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.
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.
An enzyme that catalyzes the hydrolysis of CHOLESTEROL ESTERS and some other sterol esters, to liberate cholesterol plus a fatty acid anion.
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.
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
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.
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)

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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Cholesteryl Ester Storage Disease (CESD) is a rare genetic disorder characterized by the accumulation of cholesteryl esters in various tissues and organs, particularly in the liver and spleen. It is caused by mutations in the gene responsible for producing lipoprotein lipase (LPL), an enzyme that helps break down fats called triglycerides in the body.

In CESD, the lack of functional LPL leads to an accumulation of cholesteryl esters in the lysosomes of cells, which can cause damage and inflammation in affected organs. Symptoms of CESD can vary widely, but often include enlargement of the liver and spleen, abdominal pain, jaundice, and fatty deposits under the skin (xanthomas).

CESD is typically diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing. Treatment may involve dietary modifications to reduce the intake of fats, medications to help control lipid levels in the blood, and in some cases, liver transplantation.

Wolman disease is a rare inherited disorder of lipid metabolism, specifically affecting the enzyme acid lipase that is responsible for breaking down cholesteryl esters and triglycerides in lysosomes. This autosomal recessive condition leads to an accumulation of these fatty substances in various tissues and organs, including the liver, spleen, intestines, adrenal glands, and lymph nodes.

The symptoms of Wolman disease typically appear within the first few months of life and can include vomiting, diarrhea, failure to thrive, abdominal distention, and severe malnutrition. Other features may consist of hepatosplenomegaly (enlarged liver and spleen), calcification of adrenal glands, and progressive deterioration of the nervous system. The disease often results in death within the first two years of life if left untreated.

A related condition called acid lipase deficiency or Cholesteryl Ester Storage Disease (CESD) has a later onset and milder symptoms compared to Wolman disease, as it affects only one form of acid lipase enzyme.

A sterol esterase is an enzyme that catalyzes the hydrolysis of sterol esters, which are fatty acid esters of sterols (such as cholesterol) that are commonly found in lipoproteins and cell membranes. Sterol esterases play a crucial role in the metabolism of lipids by breaking down sterol esters into free sterols and free fatty acids, which can then be used in various biochemical processes.

There are several types of sterol esterases that have been identified, including:

1. Cholesteryl esterase (CE): This enzyme is responsible for hydrolyzing cholesteryl esters in the intestine and liver. It plays a critical role in the absorption and metabolism of dietary cholesterol.
2. Hormone-sensitive lipase (HSL): This enzyme is involved in the hydrolysis of sterol esters in adipose tissue, as well as other lipids such as triacylglycerols. It is regulated by hormones such as insulin and catecholamines.
3. Carboxylesterase (CES): This enzyme is a broad-specificity esterase that can hydrolyze various types of esters, including sterol esters. It is found in many tissues throughout the body.

Sterol esterases are important targets for drug development, as inhibiting these enzymes can have therapeutic effects in a variety of diseases, such as obesity, diabetes, and cardiovascular disease.

Cholesteryl esters are formed when cholesterol, a type of lipid (fat) that is important for the normal functioning of the body, becomes combined with fatty acids through a process called esterification. This results in a compound that is more hydrophobic (water-repelling) than cholesterol itself, which allows it to be stored more efficiently in the body.

Cholesteryl esters are found naturally in foods such as animal fats and oils, and they are also produced by the liver and other cells in the body. They play an important role in the structure and function of cell membranes, and they are also precursors to the synthesis of steroid hormones, bile acids, and vitamin D.

However, high levels of cholesteryl esters in the blood can contribute to the development of atherosclerosis, a condition characterized by the buildup of plaque in the arteries, which can increase the risk of heart disease and stroke. Cholesteryl esters are typically measured as part of a lipid profile, along with other markers such as total cholesterol, HDL cholesterol, and triglycerides.

Inborn errors of lipid metabolism refer to genetic disorders that affect the body's ability to break down and process lipids (fats) properly. These disorders are caused by defects in genes that code for enzymes or proteins involved in lipid metabolism. As a result, toxic levels of lipids or their intermediates may accumulate in the body, leading to various health issues, which can include neurological problems, liver dysfunction, muscle weakness, and cardiovascular disease.

There are several types of inborn errors of lipid metabolism, including:

1. Disorders of fatty acid oxidation: These disorders affect the body's ability to convert long-chain fatty acids into energy, leading to muscle weakness, hypoglycemia, and cardiomyopathy. Examples include medium-chain acyl-CoA dehydrogenase deficiency (MCAD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCAD).
2. Disorders of cholesterol metabolism: These disorders affect the body's ability to process cholesterol, leading to an accumulation of cholesterol or its intermediates in various tissues. Examples include Smith-Lemli-Opitz syndrome and lathosterolosis.
3. Disorders of sphingolipid metabolism: These disorders affect the body's ability to break down sphingolipids, leading to an accumulation of these lipids in various tissues. Examples include Gaucher disease, Niemann-Pick disease, and Fabry disease.
4. Disorders of glycerophospholipid metabolism: These disorders affect the body's ability to break down glycerophospholipids, leading to an accumulation of these lipids in various tissues. Examples include rhizomelic chondrodysplasia punctata and abetalipoproteinemia.

Inborn errors of lipid metabolism are typically diagnosed through genetic testing and biochemical tests that measure the activity of specific enzymes or the levels of specific lipids in the body. Treatment may include dietary modifications, supplements, enzyme replacement therapy, or gene therapy, depending on the specific disorder and its severity.

Lipase is an enzyme that is produced by the pancreas and found in the digestive system of most organisms. Its primary function is to catalyze the hydrolysis of fats (triglycerides) into smaller molecules, such as fatty acids and glycerol, which can then be absorbed by the intestines and utilized for energy or stored for later use.

In medical terms, lipase levels in the blood are often measured to diagnose or monitor conditions that affect the pancreas, such as pancreatitis (inflammation of the pancreas), pancreatic cancer, or cystic fibrosis. Elevated lipase levels may indicate damage to the pancreas and its ability to produce digestive enzymes.

Lysosomes are membrane-bound organelles found in the cytoplasm of eukaryotic cells. They are responsible for breaking down and recycling various materials, such as waste products, foreign substances, and damaged cellular components, through a process called autophagy or phagocytosis. Lysosomes contain hydrolytic enzymes that can break down biomolecules like proteins, nucleic acids, lipids, and carbohydrates into their basic building blocks, which can then be reused by the cell. They play a crucial role in maintaining cellular homeostasis and are often referred to as the "garbage disposal system" of the cell.

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 a member of ... 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 ... Tooth disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease deafness dominant type Charcot-Marie-Tooth disease ...
... transfer protein Cholesteryl ester storage disease Acyl CoA cholesteryl acyltransferase (ACAT) Lecithin- ... Cholesteryl ester, a dietary lipid, is an ester of cholesterol. The ester bond is formed between the carboxylate group of a ... Cholesteryl ester levels are elevated in the caudate and putamen of Huntington's disease patients) (Cholesteryl ester levels ... Cholesteryl ester is found in human brains as lipid droplets which store and transport cholesterol. Increased levels of ...
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 ...
... 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 - ...
Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript ... This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the ... "Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene". Mol. Genet. Metab. 97 (2): 143-8. doi: ... "A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease". J Clin Psychiatry. 66 (7): 940-7. doi: ...
Asymmetric dimethylarginine Cardiovascular disease Cholesteryl ester storage disease Endothelium Lipid profile Lysosomal acid ... "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 ... cardiovascular disease, stroke and other vascular diseases. HDL particles are commonly referred to as "good cholesterol", ...
"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 ... Rare diseases, Lipid storage disorders, Autosomal recessive disorders, Diseases named for discoverer). ...
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 ... Stanol esters are a saturated subgroup of sterol esters. Plant stanol esters in Benecol products are fatty acid esters of plant ...
... often called Cholesteryl ester storage disease) Secondary combined hyperlipoproteinemia (usually in the context of metabolic ... Cholesterol". Centers for Disease Control and Prevention. Retrieved 2019-11-07. "Cholesterol and Heart Disease". www. ... HDL cholesterol carries cholesterol from other parts of the body back to the liver and then removes the cholesterol from the ... LDL, commonly known as "bad cholesterol", is associated with increased risk of cardiovascular disease. LDL cholesterol ...
A deficiency associated with lysosomal acid lipase deficiency, Wolman disease, and cholesteryl ester storage disease. ... The primary function of lysosomal lipase is to hydrolyze lipids such as triglycerides and cholesterol. These fats are ... May 2011). "A Genome-wide Association Study Identifies LIPA as a Susceptibility Gene for Coronary Artery Disease". Circ ... is associated with coronary artery disease in humans. Ding, Hao-ran; Wang, Jing-lin; Ren, Hao-zhen; Shi, Xiao-lei (2018-12-12 ...
... 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 GJ, Mazur Y, Leikin- ... In animal models, this led to a significant reduction of blood and body cholesterol and an increase in fecal sterol output, ...
"High Cholesterol" Hypocholesterolemia "Low Cholesterol" Janus-faced molecule List of cholesterol in foods Niemann-Pick disease ... These derivatives undergo degradation upon storage and it is essential to purify cholesterol prior to use. Cholesterol can be ... LDL particles are the major blood cholesterol carriers. Each one contains approximately 1,500 molecules of cholesterol ester. ... "Cholesterol ring" in the eyes Cardiovascular disease Cholesterol embolism Cholesterol total synthesis Familial ...
... cholesterol). These parameters in turn are believed to be risk indicators for some types of cardiovascular disease. These ... In nutrition, biology, and chemistry, fat usually means any ester of fatty acids, or a mixture of such compounds, most commonly ... including energy storage, waterproofing, and thermal insulation. The human body can produce the fat it requires from other food ... blood cholesterol levels, and the incidence of cardiovascular disease. The relationships are accepted as causal, including by ...
This disease causes increased concentrations of low-density lipoprotein (LDL) and cholesterol which can lead to further ... Phytases are phosphatases that can hydrolyze the ester bonds of phytate, the major form of phosphate storage in plants. Through ... Familial hypercholesterolemia is a human genetic disease caused by mutations to the gene that encodes low density lipoprotein ... "Beta-propellers: Associated Functions and their Role in Human Diseases". ResearchGate. Retrieved 2018-11-17. Kuriyan, Konforti ...
Lysosomal acid lipase deficiency or Cholesteryl ester storage disease Certain medications e.g. isotretinoin, ... high cholesterol levels) and predispose to cardiovascular disease. Chronically elevated serum triglyceride levels are a ... Lupus and associated autoimmune responses Glycogen storage disease type 1. Propofol HIV medications The diagnosis is made on ... Davidson MH, Cannon CP, Armani AM (28 January 2008). "Pharmacological Therapy for Cardiovascular Disease". In Davidson MH, Toth ...
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-esterified polyunsaturated fatty acid substrates, metabolizing linoleic acid ester to ...
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 ...
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 ...
Lovaza (omega-3 acid ethyl esters) was approved on 10 November 2004. Omtryg (omega-3 acid ethyl esters) was approved on 23 ... There has been a great deal of controversy in the 21st century about the role of fish oil in cardiovascular disease, with ... cholesterol, and trans-fats. Dioxins and PCBs may be carcinogenic at low levels of exposure over time. These substances are ... storage and transportation. ConsumerLab.com reports in its review that it found spoilage in test reports it ordered on some ...
... and related risks for genetic diseases are under active research, as of 2022. Lipid anchored protein Remnant cholesterol ... Triglycerides and cholesteryl esters are carried internally, shielded from the water by the outer shell. The kind of ... Glycerol and fatty acids can then be absorbed in peripheral tissues, especially adipose and muscle, for energy and storage. The ... The external shell also contains phospholipids and cholesterol. All cells use and rely on fats and cholesterol as building ...
23 g) of olive oil daily may reduce the risk of coronary heart disease due to the monounsaturated fat in olive oil. To achieve ... Riley, F. R. "Olive Oil Production on Bronze Age Crete: Nutritional properties, Processing methods, and Storage life of Minoan ... Another meta-analysis in 2018 found high-polyphenol olive oil intake was associated with improved measures of total cholesterol ... Olive oil contains traces of phenolics (about 0.5%), such as esters of tyrosol, hydroxytyrosol, oleocanthal and oleuropein, ...
Esters of fatty acids with simpler alcohols (such as methyl-, ethyl-, n-propyl-, isopropyl- and butyl esters) are used as ... Together with cholesterol and ceramides, free fatty acids form a water-impermeable barrier that prevents evaporative water loss ... Knox, Sophie; O'Boyle, Niamh M. (2021). "Skin lipids in health and disease: A review". Chemistry and Physics of Lipids. 236: ... the main storage form of fatty acids, and thus of energy in animals. However, fatty acids are also important components of the ...
Mani P, Rohatgi A (August 2015). "Niacin Therapy, HDL Cholesterol, and Cardiovascular Disease: Is the HDL Hypothesis Defunct ... It also inhibits HDL-C hepatic uptake by suppressing production of the cholesterol ester transfer protein (CETP) gene. It ... In the liver, niacinamide is converted to storage nicotinamide adenine dinucleotide (NAD). As needed, liver NAD is hydrolyzed ... Niacin reduces synthesis of low-density lipoprotein cholesterol (LDL-C), very low-density lipoprotein cholesterol (VLDL-C), ...
M. tuberculosis can also grow on the lipid cholesterol as a sole source of carbon, and genes involved in the cholesterol-use ... In various diseases, such as type II diabetes, metabolic syndrome, and cancer, normal metabolism is disrupted. The metabolism ... 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 ...
Cellulose is an important structural component of plant's cell walls and glycogen is used as a form of energy storage in ... In medicine, biochemists investigate the causes and cures of diseases. Nutrition studies how to maintain health and wellness ... This makes them amphiphilic molecules (having both hydrophobic and hydrophilic portions). In the case of cholesterol, the polar ... Two monosaccharides can be joined by a glycosidic or ester bond into a disaccharide through a dehydration reaction during which ...
Starch (a polymer of glucose) is used as a storage polysaccharide in plants, being found in the form of both amylose and the ... Acidic polysaccharides are polysaccharides that contain carboxyl groups, phosphate groups and/or sulfuric ester groups. ... "Dietary Reference Intakes for Energy, Carbohydrate, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and Amino Acids ( ... and is responsible for the mucoid phenotype of late-stage cystic fibrosis disease. The pel and psl loci are two recently ...
The salts and esters of lauric acid are known as laurates. Lauric acid, as a component of triglycerides, comprises about half ... ISBN 978-3-540-22569-0. Effects of dietary fatty acids and carbohydrates on the ratio of serum total to HDL cholesterol and on ... for thermal energy storage in building material applications" (PDF). University Putra Malaysia. Archived from the original (PDF ... was similarly inconclusive about the effects on cardiovascular disease incidence. G., Chuah T.; D., Rozanna; A., Salmiah; Y., ...
Vernix of term infants has more squalene and a higher wax ester to sterol ester ratio than preterm infants. Vernix is composed ... Keratin filaments build a scaffold like structure which form a water-storage area. As opposed to stratum corneum, the vernix ... Sidbury, Robert (2018), "Newborn Skin Development", Avery's Diseases of the Newborn, Elsevier, pp. 1468-1474.e1, doi:10.1016/ ... Chemically, it is water (80%), lipids (10%) and proteins (10%). The lipids include ceramides, cholesterol, fatty acids, ...
... is a rare genetic disorder that affects the breakdown and storage of cholesterol in the body. It is caused by mutations in the ... Symptoms of CESD include enlarged liver and spleen, abnormal lipid levels, and an increased risk of cardiovascular disease. ... Cholesterol Ester Storage Disease Cesd Cholesterol Ester Storage Disease (CESD) is a rare genetic disorder that affects the ... breakdown and storage of cholesterol in the body. It is caused by mutations in the LIPA gene, which codes for the lysosomal ...
... supporting the diagnosis of cholesterol ester storage disease. Given previous suggestions of cardiovascular disease risk in ... Because homozygosity for mutations in LIPA is known to cause cholesterol ester storage disease, we performed directed follow-up ... we diagnosed clinically unapparent cholesterol ester storage disease in the affected individuals from this kindred and ... We observed abnormal hepatic accumulation of cholesterol in the homozygote individuals, ...
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 a member of ... Subsequently he spent a year in the laboratory of Ivan Frantz, a cholesterol biochemist, at Massachusetts General Hospital. In ...
Lipid storage disorders are a family of diverse diseases related by their molecular pathology. In each disorder, a deficiency ... Krabbe disease, multiple sulfatase deficiency, Farber disease, Wolman disease, and cholesterol ester storage disease (CESD). ... Cholesterol ester storage disease (CESD) is the milder form of Wolman disease, with later onset in childhood, less severe ... ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation ...
... cholesterol ester storage disease and Lynch syndrome. Our study shows the tremendous value in the application of novel machine ... Many human hereditary diseases are caused by mutations affecting this process. In this study, we identified a novel compound ... Prevalence of Angina Among Primary Care Patients with Coronary Artery Disease. Blumenthal DM, Howard SE, Searl Como J, OKeefe ... Prevalence of Angina Among Primary Care Patients with Coronary Artery Disease. Blumenthal DM, Howard SE, Searl Como J, OKeefe ...
About the Disease. Lysosomal acid lipase deficiency (LAL-D), also known as Wolman disease or cholesterol ester storage disease ... We help underinsured people with life-threatening, chronic, and rare diseases get the medications and treatments they need by ... The resulting high levels of cholesterol and fats result in blood vessel and organ damage. ... genetic condition in which the body does not produce enough lysosomal acid lipase enzyme to process fats and cholesterol. ...
... a form of glycogen storage disease, and cholesterol ester storage disease. A defect in activity of lipoprotein lipase also has ... Fecal color may change in animals with liver disease with enteric bile flow disruption (eg, complete bile duct obstruction, ... Chronic necroinflammatory liver disease evolving ascites typically is associated with critical loss of functional hepatic mass ... The pathogenesis of abdominal effusion is diverse; causes associated with liver disease can be categorized according to cause ...
cholesterol ester storage disease DOID:14502 * lipoid nephrosis DOID:10966 * reticular dysgenesis ... A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. Embeddings are ...
cholesterol ester storage disease DOID:14502 * obstructive jaundice DOID:13603 * Budd-Chiari syndrome ... A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. Embeddings are ...
Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders in which harmful amounts of fatty ... This autosomal recessive disorder is marked by accumulation of cholesteryl esters (a transport form of cholesterol) and ... What are lipid storage diseases?. Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders ... Who is more likely to get lipid storage diseases?. Lipid storage diseases are inherited from one or both parents who carry a ...
We are presenting an infant with Wolman disease and two children with cholesterol ester storage disease with the aim to raise ... Cholesterol ester storage disease may be diagnosed in childhood or later in life. It is characterized by chronic course and ... Complete enzyme deficiency results in massive accumulation of cholesterol esters and triglycerides in intestines, liver, spleen ... is pathohistological finding of microvesicular steatosis and fibrosis and patognomonic are typical cholesterol ester crystals. ...
Wolman Disease. *Cholesterol Ester Storage Disease. *Storage Disease. *Hepatitis. *Hepatitis C. *Infective Disorder ... Diseases for Lipase A Recombinant Protein (H00003988-P01). Discover more about diseases related to Lipase A Recombinant Protein ... Discover related pathways, diseases and genes to Lipase A Recombinant Protein (H00003988-P01). Need help? Read the ... Obesity, diabetes and metabolic disorders are dramatically on the increase, linked to disorders such as heart disease, stroke ...
Pompe Disease. Hunter Syndrome (MPS II). Precocious Puberty. Phenylketonuria. Wolman Disease. Cholesterol Ester Storage Disease ... Congenital Heart Disease. Coronary Artery Disease. High Blood Pressure (Hypertension). Raynauds Disease. Thrombosis. Varicose ... Peripheral Arterial Occlusive Disease. Limb Preservation and Amputation. Peripheral Vascular Disease. Heart Disease. Smoking ... Renal Artery Disease. Impotence. Kidney Stones. Urinary Incontinence. Tyrosinemia. Kidney Disease. Urinary Tract Infections. ...
Burke, J. A. & Schubert, W. K. Deficient activity of hepatic acid lipase in cholesterol ester storage disease. Science 176, 309 ... Choline helps in the optimal functioning of the body and reduces the risk of fatty liver disease. It can boost the memory ... It states that Sylimarin has shown positive effects as a supportive treatment in most forms of liver disease incurred due to ... Ludwig, D. S., Hu, F. B., Tappy, L. & Brand-Miller, J. Dietary carbohydrates: role of quality and quantity in chronic disease. ...
... has become the standard of care for children with end-stage or metabolic liver disease, acute liver failure, and unresectable ... Glycogen storage disease *. Wilson disease *. Cholesterol ester storage disease *. Crigler-Najjar type 1 ... Primary liver disease or condition-specific indications fall into four broad categories: chronic liver disease, acute liver ... include cystic fibrosis liver disease, nonfatal metabolic liver disease, and portosystemic shunts. ...
... occur in Wolman disease and cholesterol ester storage disease. It is found at low levels only in most other animal tissues ... Deficiencies in the enzymes responsible for the hydrolysis of cholesterol esters, such as the lysosomal acid lipase, ... Given that StAR StarD1 acts on the outer membrane in mediating the transfer of cholesterol from the OMM to the IMM, and raises ... It may also affect cholesterol levels. The drug can still be found in the meat of livestock after it has been butchered, and ...
Lysosomal acid lipase deficiency is mostly a pediatric disease, but milder forms with normal life-span are also seen. ... Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report. ... Cholesteryl Ester Storage Disease. Cholesteryl Ester Storage Disease (CESD) is at the milder end of disease variability, it is ... Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy ...
Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript ... This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the ... Wolman Disease: A Mimic of Infant Leukemia.. J Pediatr Hematol Oncol. 2017; 39(8):e489-e492 [PubMed] Related Publications ... Cancer as a disease is a multifaceted foe which sometimes succumbs to the prescribed treatment and sometimes develops ...
Cholesteryl Ester Storage Disease and Wolman Disease - Learn about the causes, symptoms, diagnosis & treatment from the MSD ... In cholesteryl ester storage disease and Wolman disease, cholesterol and triglycerides, which are important fats in the blood, ... Cholesteryl ester storage disease Cholesteryl ester storage disease is less severe than Wolman disease and may not occur until ... Cholesteryl ester storage disease and Wolman disease are hereditary metabolic disorders called lipid storage diseases ( ...
Cholesterol Ester Storage Disease. *Cystinosis. *Lysosomal Storage Diseases, Nervous System. *Mannosidase Deficiency Diseases ... "Lysosomal Storage Diseases" by people in this website by year, and whether "Lysosomal Storage Diseases" was a major or minor ... "Lysosomal Storage Diseases" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Lysosomal Storage Diseases" by people in Profiles. ...
BACKGROUND: Cholesterol ester storage disease (CESD) is one of the rare causes that should be kept in mind in the etiology of ... Pathogenic variants in the LIPA result in autosomal recessive Wolman disease and cholesteryl ester storage disease (CESD). Here ... In contrast, the mild disease subtype of this disorder is known as cholesteryl ester storage disease, with hypercholesterolemia ... Among the two disease subtypes, the severe disease subtype of LAL-D is known as Wolman disease, with typical manifestations ...
... to later-onset forms collectively known as cholesterol ester storage disease (CESD). Wolman disease is characterized by ... storage of cholesterol esters and triglycerides in hepatic macrophages that results in hepatomegaly and liver disease, and ... Glycogen storage disease, type IV. MedGen UID: 6642. •Concept ID: C0017923. •. Disease or Syndrome. ... Syndromic multisystem autoimmune disease due to ITCH deficiency. MedGen UID: 461999. •Concept ID: C3150649. •. Disease or ...
... to later-onset forms collectively known as cholesterol ester storage disease (CESD). Wolman disease is characterized by ... storage of cholesterol esters and triglycerides in hepatic macrophages that results in hepatomegaly and liver disease, and ... Glycogen storage disease due to glucose-6-phosphatase deficiency type IA. MedGen UID: 415885. •Concept ID: C2919796. •. Disease ... Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting ...
... cholesterol ester storage disease), alpha 1 antitrypsin deficiency, porphyrias, and undiagnosed liver diseases in the younger ... Mistry is director of the Yale Lysosomal Disease Center and the internationally recognized Gaucher Disease Treatment Center. Dr ... He has a particular interest in Gaucher disease, an inherited disorder in which fatty substances build up in certain organs. In ... At Yale School of Medicine, he is a professor of both medicine (digestive diseases) and of pediatrics (gastroenterology), and ...
Deficiencies in LAL are primarily associated with two diseases: cholesteryl ester storage disease (CESD) and Wolmans disease ( ... Lysosomal acid lipase (LAL), in particular, is required for the hydrolysis of cholesterol esters which are then delivered into ... palmitate has often been used as one of the lipase substrates in studies involving either of these diseases. ...
... mild form cholesterol ester storage disease) (See Wolman Disease and Cholesteryl Ester Storage Disease for detailed information ... cholesteryl ester storage disease, leads mainly to cholesteryl ester storage. The lysosomal acid lipase genotype determines the ... Wolman Disease and Cholesteryl Ester Storage Disease. Lysosomal acid lipase (LAL) is the enzyme necessary for the hydrolysis of ... Reynolds T. Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis ...
Elevated triglyceride measurements are associated with diabetes mellitus, pancreatitis, alcoholism, glycogen storage disease, ... Triglycerides are fatty acid esters of glycerol that have three hydroxyl groups. Because they are insoluble in water, the ... and HDL-cholesterol according to the Friedewald calculation: [LDL-cholesterol] = [total cholesterol] - [HDL-cholesterol] - [ ... LBDLDL - LDL-cholesterol (mg/dL). Variable Name: LBDLDL. SAS Label: LDL-cholesterol (mg/dL). English Text: LDL-cholesterol (mg/ ...
cholesterol answers are found in the Tabers Medical Dictionary powered by Unbound Medicine. Available for iPhone, iPad, ... cholesterol embolization syndrome. cholesterol ester storage disease. screening. Cholesterol, Total and Fractions ... Cholesterol levels may be decreased by eating a diet that is low in cholesterol and fat and high in fiber; exercising regularly ... An elevated blood level of cholesterol increases a persons risks of developing coronary heart disease (CHD). Lowering elevated ...
Cholesterol Ester Storage Disease. *Cystinosis. *Lysosomal Storage Diseases, Nervous System. *Mannosidase Deficiency Diseases ... Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). The defects ... "Mannosidase Deficiency Diseases" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Mannosidase Deficiency Diseases" by people in this website by ...
  • These organs appear to be infiltrated by macrophages filled with cholesteryl esters and triglycerides ( foam cell infiltration ). (bredagenetics.com)
  • This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. (cancerindex.org)
  • Cholesteryl ester storage disease and Wolman disease are hereditary metabolic disorders called lipid storage diseases (lipidoses) that are caused by a buildup of types of cholesterol and triglycerides in the tissues. (msdmanuals.com)
  • In cholesteryl ester storage disease and Wolman disease, cholesterol and triglycerides, which are important fats in the blood, accumulate in tissues. (msdmanuals.com)
  • The enzyme needed to break down cholesterol and triglycerides, called lysosomal acid lipase, does not work correctly. (msdmanuals.com)
  • Background: The LIPA gene encodes for lysosomal acid lipase (LAL), which catalyzes the hydrolysis of cholesterol esters and triglycerides. (bvsalud.org)
  • Triglycerides are fatty acid esters of glycerol that have three hydroxyl groups. (cdc.gov)
  • Progressive lysosomal lipid accumulation leads to the characteristic liver pathology and dysfunction (including hepatomegaly, liver fibrosis and/or cirrhosis, and elevated serum transaminases), dyslipidemia (elevated serum LDL-cholesterol and triglycerides, with normal to low HDL-cholesterol concentrations), premature atherosclerosis, splenomegaly and, eventually, end-stage liver failure. (orpha.net)
  • LAL hydrolyzes cholesteryl esters and triglycerides, and thus LAL deficiency results in gradual accumulation of these lipids in the liver, spleen, and other organs. (orpha.net)
  • The disease is suspected on clinical presentation of hepatomegaly, elevated transaminases, total cholesterol, low-density lipoprotein, and triglycerides, and low high-density lipoprotein. (orpha.net)
  • The lysosomal acid lipase enzyme breaks down lipids such as cholesteryl esters and triglycerides. (medlineplus.gov)
  • Decreased lysosomal acid lipase activity results in the accumulation of cholesteryl esters, triglycerides, and other lipids within lysosomes, causing fat buildup in multiple tissues. (medlineplus.gov)
  • Cholesterol and fatty acids (as triglycerides) are exported from the liver as VLDL, to distribute triglycerides and cholesterol-fatty acid esters to all peripheral tissues that require these lipids for membrane synthesis, or for storage in the adipose tissue, with the resulting LDL particles being taken up again mainly by the liver. (fatsoflife.com)
  • Unusually low levels of triglycerides can be present in disease states, producing syndromes of malabsorption in addition to patients who carry genes for familial hypobetalipoproteinemia . (medscape.com)
  • Structurally they are esters of glycerol with three fatty acids (called either triacylglycerols or triglycerides). (ifst.org)
  • However, specific enzymes can be used as catalyst to avoid breaking the ester linkage in the central position of the triglyceride molecule and so allow the production of deliberately structured triglycerides. (ifst.org)
  • Hyperlipidemia comprises a heterogeneous group of disorders, characterized by high levels in one or more lipids and/or lipoproteins [atherogenic free fatty acids (FA), triglycerides (TG) (hypertriglyceridemia), small dense low-density lipoprotein cholesterol (LDL-C) (hypercholesterolemia), and apolipoprotein (apo) B], and/or low level in antiatherogenic high density lipoprotein cholesterol (HDL-C), in the circulation [ 1 - 3 ]. (hindawi.com)
  • Triglycerides are complex molecules used for the storage and transport of non-soluble fatty acids in the body. (biocrates.com)
  • While triglycerides play an essential role in human health, elevated levels are associated with health problems such as obesity, cardiovascular disease, non-alcoholic fatty liver disease (NAFLD) and pancreatitis. (biocrates.com)
  • Simple triglycerides, where all three fatty acid esters are the same, take their common name from the fatty acid from which they are derived, such as palmitin, derived from palmitic acid. (biocrates.com)
  • Through de novo lipogenesis (DNL), these are then turned back into triglycerides in enterocytes, combining cholesterol and proteins to form chylomicrons, which are triglyceride-rich lipoproteins. (biocrates.com)
  • Cholesteryl Ester Storage Disease (CESD) is at the milder end of disease variability, it is later-onset and presents with primary hepatic involvement by foam cells (macrophages engorged with cholesteryl esters). (bredagenetics.com)
  • Lysosomal acid lipase (LAL) is the sole lysosomal enzyme responsible for the degradation of cholesteryl esters and triacylglycerols at acidic pH. (bvsalud.org)
  • Cholesteryl esters are hydrolyzed by cholesteryl esterase (CHE) to fatty acids and free cholesterol, which is oxidized by cholesteryl oxidase (COD) to cholesterol enzymes and produces hydrogen peroxide, which is then combined with 4-aminoantipyrine and TOOS to form a red quinoneimine compound by the action of POD (Trinder reaction). (enzymes.bio)
  • The incidence of target organ damage associated to CVD increases with age, and gender studies show global higher incidence in men for stroke and coronary artery disease (CAD) [ 10 ]. (hindawi.com)
  • Hypertriglyceridemia is indicative of insulin resistance when present with low high-density lipoprotein (HDL) and elevated low-density lipoprotein (LDL), while elevated triglyceride is a clinical risk factor for coronary artery disease (CAD), especially when low HDL is present. (medscape.com)
  • TC measurement can be used as a diagnostic indicator of liver function, biliary function, intestinal absorption and coronary artery disease. (enzymes.bio)
  • Cholesterol Ester Storage Disease (CESD) is a rare genetic disorder that affects the breakdown and storage of cholesterol in the body. (centerwatch.com)
  • Symptoms of CESD include enlarged liver and spleen, abnormal lipid levels, and an increased risk of cardiovascular disease. (centerwatch.com)
  • Lysosomal acid lipase deficiency (LAL-D), also known as Wolman disease or cholesterol ester storage disease (CESD), is an inherited genetic condition in which the body does not produce enough lysosomal acid lipase enzyme to process fats and cholesterol. (panfoundation.org)
  • Deficiency of lysosomal acid lipase causes two distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). (bredagenetics.com)
  • Although CESD is relatively benign in contrast to Wolman disease, death may occur as consequence of acute hepatic failure. (bredagenetics.com)
  • Pathogenic variants in the LIPA result in autosomal recessive Wolman disease and cholesteryl ester storage disease (CESD). (bvsalud.org)
  • Deficiencies in LAL are primarily associated with two diseases: cholesteryl ester storage disease (CESD) and Wolman's disease (WD). (goldbio.com)
  • The later onset form, cholesteryl ester storage disease (CESD), presents between childhood and adulthood with a more variable clinical course that ranges from insidious to symptomatic. (orpha.net)
  • The variable phenotype is due to the amount of residual LAL activity, less than 1% for Wolman disease and between 1-12% for CESD. (orpha.net)
  • Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body. (nih.gov)
  • In affected individuals, harmful amounts of fats (lipids) accumulate in cells and tissues throughout the body, which typically causes liver disease. (medlineplus.gov)
  • The lipids produced through these processes, cholesterol and fatty acids, are used by the body or transported to the liver for removal. (medlineplus.gov)
  • Absorbed lipids are transported in chylomicrons via the lymphatic system into the bloodstream, where they reach the liver , peripheral tissues (which have LDL receptors ) and adipose tissue (storage). (amboss.com)
  • Niemann-Pick type C1 (NPC1) disease is a rare neurovisceral disorder characterized by intracellular accumulation of unesterified cholesterol, sphingolipids, and other lipids in the lysosomal compartment. (jneurosci.org)
  • The nonpolar lipids present in cells are mainly triacylglycerols and steryl esters. (microbiologyresearch.org)
  • When cells are provided with an abundance of nutrients, these storage lipids accumulate. (microbiologyresearch.org)
  • Lysosomal acid lipase (LAL), in particular, is required for the hydrolysis of cholesterol esters which are then delivered into the lysosome. (goldbio.com)
  • Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). (ouhsc.edu)
  • Dietary restriction has shown promise for disorders such as lysosomal acid lipase deficiency (Wolman disease), as has incorporation of lipid-lowering drugs in the regimen along with sebelipase alpha, a recombinant enzyme replacement therapy. (medscape.com)
  • The defective enzyme leads to lipid product accumulation, resulting in dysfunction of cellular organelles with a common storage place being the lysosome. (medscape.com)
  • Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. (nih.gov)
  • Classically, lysosomal storage diseases encompassed only enzyme deficiencies of the lysosomal hydrolases. (medscape.com)
  • Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), and Pompe disease. (medscape.com)
  • This has led to active clinical trials evaluating the safety and efficacy of intrathecal enzyme delivery in several lysosomal storage diseases (see www.ClinicalTrials.gov). (medscape.com)
  • Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), Pompe disease, and recently Batten disease (neuronal ceroid lipofuscinoses, CLN2). (medscape.com)
  • The disease is due to mutations in the gene LIPA (10q23.2-q23.3) encoding the enzyme lysosomal acid lipase (LAL). (orpha.net)
  • Interesterification is a process in which the ester linkages between the fatty acid and glycerol are broken and then re-formed usually in a random (but predictable) conformation. (ifst.org)
  • Saturated fatty acids are somewhere in the middle - they increase both the detrimental and the beneficial cholesterol levels but they also do this to varying extents depending on their fatty acid chain length. (ifst.org)
  • These studies have resulted in identifying specific disease-causing mutations and have led to improved clinical and laboratory diagnosis, prenatal diagnosis, and carrier identification. (medscape.com)
  • Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. (cancerindex.org)
  • Age of onset and clinical manifestations may vary widely among patients with a given lysosomal storage disease, and significant phenotypic heterogeneity between family members carrying identical mutations has been reported. (medscape.com)
  • Activating mutations in the Leucine Rich Repeat Kinase 2 (LRRK2) cause Parkinson's disease and previously we showed that activated LRRK2 phosphorylates a subset of Rab GTPases (Steger et al. (stanford.edu)
  • People with loss-of-function mutations in PCSK9 have lower LDL levels and a markedly lower incidence of coronary heart disease. (fatsoflife.com)
  • The reverse situation is also recognized: people with gain-of-function PCSK9 mutations have a marked increase in blood cholesterol levels and an increased coronary heart disease incidence. (fatsoflife.com)
  • 2012). Mutations in the cholesterol efflux transporter, ABCA1, bring about signs or symptoms of Tangier disease (Fasano et al. (cancercurehere.com)
  • Niemann-Pick disease is a group of autosomal recessive disorders caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some instances, brain. (nih.gov)
  • Accumulation of neutral fats and cholesterol esters in the arteries predispose affected persons to atherosclerosis and cardiovascular events such as infarction and stroke. (bredagenetics.com)
  • Impaired LAL activity leads to LAL deficiency (LAL-D), a severe and fatal disease characterized by ectopic lysosomal lipid accumulation. (bvsalud.org)
  • Lysosomal storage diseases describe a heterogeneous group of dozens of rare inherited disorders characterized by the accumulation of undigested or partially digested macromolecules, which ultimately results in cellular dysfunction and clinical abnormalities. (medscape.com)
  • A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis. (orpha.net)
  • Finally, CGS21680 reduces cholesterol accumulation (Filipin III staining), which is the main criterion currently used for identification of a compound or pathway that would be beneficial for NPC disease, and such an effect is prevented by the Ca 2+ chelator BAPTA-AM. Our findings strongly support the hypothesis that A 2A R agonists may represent a therapeutic option for NPC1 and provide insights on their mechanisms of action. (jneurosci.org)
  • The resulting high levels of cholesterol and fats result in blood vessel and organ damage. (panfoundation.org)
  • Over time, excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system (the nerves from the spinal cord to the rest of the body), liver, spleen, and bone marrow. (nih.gov)
  • These diseases cause high levels of fats in the blood and an enlarged liver. (msdmanuals.com)
  • Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). (medlineplus.gov)
  • A metabolic disorder is any disease or disorder that negatively affects the biochemical reactions through which individual animal cells process nutrient molecules (such as the components of carbohydrates , proteins , and fats ) to yield energy or perform the functions necessary to sustain life (such as building complex molecules and creating cellular structure). (newworldencyclopedia.org)
  • Wolman disease is very rare, with a stimated incidence of less than one in 100,000 live births . (bredagenetics.com)
  • Wolman disease is the more severe disease. (msdmanuals.com)
  • Infants with Wolman disease usually die by 6 months of age if untreated. (msdmanuals.com)
  • Cholesteryl ester storage disease is less severe than Wolman disease and may not occur until later in life, even adulthood, at which time people may have an enlarged liver and spleen. (msdmanuals.com)
  • The early-onset, rapidly progressive form, Wolman disease, presents in the neonatal or infantile period with non-specific symptoms of massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting, resulting in malabsorption, and cachexia. (orpha.net)
  • The early-onset form was known as Wolman disease, and the later-onset form was known as cholesteryl ester storage disease. (medlineplus.gov)
  • An elevated plasma low-density lipoprotein (LDL) level is associated with an increased risk of cardiovascular disease. (fatsoflife.com)
  • A study by Aberra et al indicated that the average value of triglyceride measurements over time is more accurate than a single triglyceride value in predicting the risk of cardiovascular disease (CVD). (medscape.com)
  • They increase the detrimental low density lipoprotein (LDL) cholesterol and decrease the beneficial high density lipoprotein (HDL) cholesterol giving rise to a greater risk of cardiovascular disease (CVD) in some individuals. (ifst.org)
  • The pancreas secretes pancreatic lipase , colipase, and cholesterol esterase , which hydrolyze the lipid into cholesterol , fatty acids , and 2-monoglyceride molecules. (amboss.com)
  • Cholesterol esterase and cholesterol oxidase coupled with Trinder reaction were used. (enzymes.bio)
  • His group identified Tangier disease (HDL deficiency) and cholesteryl ester storage disease, two inborn errors of cholesterol metabolism. (wikipedia.org)
  • Niemann-Pick disease type C is not caused by a deficiency of sphlingomyelinase but by a lack of the NPC1 or NPC2 proteins. (nih.gov)
  • Lysosomal acid lipase deficiency is predominantly a pediatric disease , although milder forms of the disease with possibility of a normal life-span are also possible. (bredagenetics.com)
  • In 2015 the results of a phase 3 trial with sebelipase , a recombinant human lysosomal acid lipase, resulted in a reduction in multiple disease-related hepatic and lipid abnormalities in children and adults with lysosomal acid lipase deficiency. (bredagenetics.com)
  • Dr. Mistry, who was born in Kenya and grew up in England, has additional clinical interests in such areas as liver disorders of lipid metabolism (such as Neimann Pick disease, cholesterol ester storage disease), alpha 1 antitrypsin deficiency, porphyrias, and undiagnosed liver diseases in the younger patients. (yalemedicine.org)
  • Mannosidase Deficiency Diseases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ouhsc.edu)
  • This graph shows the total number of publications written about "Mannosidase Deficiency Diseases" by people in this website by year, and whether "Mannosidase Deficiency Diseases" was a major or minor topic of these publications. (ouhsc.edu)
  • Below are the most recent publications written about "Mannosidase Deficiency Diseases" by people in Profiles. (ouhsc.edu)
  • Individuals with this form of lysosomal acid lipase deficiency may have increased liver enzymes and high cholesterol levels, which can be detected with blood tests. (medlineplus.gov)
  • More recently, the concept of lysosomal storage disease has been expanded to include deficiencies or defects in proteins necessary for the normal post-translational modification of lysosomal enzymes (which themselves are often glycoproteins), activator proteins, or proteins important for proper intracellular trafficking between the lysosome and other intracellular compartments. (medscape.com)
  • Atherosclerosis is a chronic vascular inflammatory disease associated to oxidative stress and endothelial dysfunction. (hindawi.com)
  • Oxidation of low-density lipoprotein (LDL) cholesterol is one of the key factors for the development of atherosclerosis. (hindawi.com)
  • Oxidation of low-density lipoprotein (LDL) cholesterol is crucial in the development of atherosclerosis, and low LDL levels reduce the risk of major events in patients with CVD [ 6 ]. (hindawi.com)
  • Reduction of total cholesterols (TC) and LDL-C by dietary alterations and medications that affect lipid metabolism [ 14 ] is found to reduce the occurrence of atherosclerosis in animals and clinical cardiovascular events in human [ 15 ]. (hindawi.com)
  • Until lately, Rabbit Polyclonal to HNRPLL cholesterol has mainly been accepted with an impact on immunity during pathological circumstances such as for example in atherosclerosis (Fessler, 2016). (cancercurehere.com)
  • The disorder is slowly progressive and show a wide clinical variability , ranging from early onset involvement with severe cirrhosis to later onset manifestations with more slowly progressive hepatic disease and survival into adulthood. (bredagenetics.com)
  • A novel transgenic mouse model of lysosomal storage disorder. (umassmed.edu)
  • In general, transplantation yields the best results when performed early in the course of the disease (ie, in an asymptomatic affected sibling of a child with a lysosomal storage disorder), in centers with experience in performing transplantations to treat inherited metabolic disorders, and in patients healthy enough to tolerate the conditioning and transplantation regimen. (medscape.com)
  • Gene therapy is experimental but in the future may help correct both somatic and neurologic abnormalities in a lysosomal storage disorder. (medscape.com)
  • He has a particular interest in Gaucher disease, an inherited disorder in which fatty substances build up in certain organs. (yalemedicine.org)
  • For instance, defective lipid trafficking in the lack of NPC1 network marketing leads towards the lysosomal storage space disorder Niemann-Pick disease (Platt et al. (cancercurehere.com)
  • This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). (cancerindex.org)
  • 4-Methylumbelliferyl palmitate has often been used as one of the lipase substrates in studies involving either of these diseases. (goldbio.com)
  • New developments and tests for disease can be followed by reviewing the Lysosomal Storage Disease Network, Online Mendelian Inheritance in Man,[2] and GeneTests[3] Web sites. (medscape.com)
  • Neurons and glia are commonly affected, likely because of the relative paucity of cell turnover in the central nervous system, yet non-neuronopathic forms of lysosomal storage disease exist. (medscape.com)
  • In addition, for some disorders (eg, Gaucher disease), making genotype-phenotype correlations that predict disease severity and allow more accurate genetic risk counseling is possible. (medscape.com)
  • One of the most common lysosomal storage disorders is Gaucher disease, discussed below. (medscape.com)
  • Type 2 (acute infantile neuropathic Gaucher disease) typically begins within three months of birth. (nih.gov)
  • It is characterized by slowly progressive yet milder neurologic symptoms compared to type 2 Gaucher disease. (nih.gov)
  • In addition to his clinical work, Dr. Mistry is director of the Yale Lysosomal Disease Center and the internationally recognized Gaucher Disease Treatment Center. (yalemedicine.org)
  • Introduction The National Center for Health Statistics (NCHS) of the Centers for Disease Control and Prevention (CDC) collects, analyzes, and disseminates data on the health status of U.S. residents. (cdc.gov)
  • causes associated with liver disease can be categorized according to cause as prehepatic, hepatic, or posthepatic. (msdvetmanual.com)
  • Liver transplantation (LT) has become the standard of care for children with end-stage or metabolic liver disease, acute liver failure, and unresectable liver tumors, with most common indication being biliary atresia. (musculoskeletalkey.com)
  • Liver transplantation (LT) is now widely accepted as the standard of care for the management and treatment of acute liver failure and end-stage liver disease in children. (musculoskeletalkey.com)
  • The improvement in outcomes has resulted from continuous progress across the spectrum of care of children in need of LT. Advances in diagnosis and management of liver disease, development of improved intensive care support and therapies, and refinement of transplant surgical technique and perioperative care have contributed to improved overall patient and graft survival. (musculoskeletalkey.com)
  • The recognition of the importance of nutritional support, prompt diagnosis and treatment of infection, and advances in management of the multisystem complications of both chronic liver disease and acute liver failure have contributed to improved pretransplant survival of these children and improved condition at time of transplantation. (musculoskeletalkey.com)
  • While the primary indication and role of LT is to increase survival in patients with life-limiting acute or chronic liver conditions, the overall excellent survival outcomes realized today have allowed for expanded consideration of LT in certain clinical situations to improve quality of life of children suffering debilitating complications or side effects related to their liver disease. (musculoskeletalkey.com)
  • Reduced LAL activity also contributes to the development and progression of non-alcoholic fatty liver disease (NAFLD). (bvsalud.org)
  • Here, we report a novel missense variant (NM_001127605.3:c.928T>A, p.Trp310Arg) of LIPA in an Iranian family with fatty liver disease identified by whole-exome sequencing and confirmed by Sanger sequencing. (bvsalud.org)
  • however, they are likely to survive without progression of the liver disease and may not show cardiac, skeletal muscle, or neurologic involvement. (nih.gov)
  • Nonalcoholic fatty liver disease (NAFLD) is highly prevalent and can result in nonalcoholic steatohepatitis (NASH) and progressive liver disease including cirrhosis and hepatocellular carcinoma. (wjgnet.com)
  • An estimated 30% of adults and 10% of children and adolescents in the United States have nonalcoholic fatty liver disease (NAFLD), defined as liver fat content exceeding 5% (Figure 1 )[ 1 - 3 ]. (wjgnet.com)
  • Non-alcoholic fatty liver disease is associated with obesity, non-insulin dependent diabetes, and hypertriglyceridemia and represents the hepatic manifestation of the metabolic syndrome[ 4 ]. (wjgnet.com)
  • Nonalcoholic steatohepatitis affects approximately 3% of the lean population and 19% of obese persons, making it the most prevalent cause of chronic liver disease in the country[ 6 ]. (wjgnet.com)
  • Moreover, NASH represents a progressive form of liver disease. (wjgnet.com)
  • Differential diagnosis includes familial hypercholesterolemia, non-alcoholic fatty liver disease, cryptogenic cirrhosis, and combined hyperlipidemia, as well as other lysosomal storage disorders. (orpha.net)
  • Scar tissue quickly builds up in the liver, leading to liver disease (cirrhosis). (medlineplus.gov)
  • The data will be used to monitor the status of hyperlipidemia and the success of the National Cholesterol Education Program. (cdc.gov)
  • Hyperlipidemia, characterized by the abnormal blood lipid profiles, is one of the dominant factors of many chronic diseases such as diabetes, obesity, and cardiovascular diseases (CVD). (hindawi.com)
  • Thus, prevention and treatment of hyperlipidemia are effective approaches to reduce the incident rate of chronic diseases. (hindawi.com)
  • A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. (edu.sa)
  • Background: Breast cancer is a heterogeneous disease that can be subdivided on the basis of histopathological features, genetic alterations, and gene-expression profiles. (cancerindex.org)
  • Gene therapy in lysosomal diseases]. (umassmed.edu)
  • The gene responsible for the disease was discovered in 1993, leading to a better understanding of the condition and to improved predictive genetic testing, but it has yet to lead to any treatments that slow the neurodegeneration in Huntington's patients. (news-medical.net)
  • Lipid storage disorders are a family of diverse diseases related by their molecular pathology. (medscape.com)
  • The biochemical basis of lipid storage disorders is well characterized and includes determining properties of enzymatic activities and various storage products. (medscape.com)
  • All lipid storage disorders are inherited in an autosomal-recessive fashion, except for Fabry disease and mucopolysaccharidosis type II (Hunter disease), which are X-linked. (medscape.com)
  • Disorders in which intracellular material that cannot be metabolized is stored in lysosomes are called lysosomal storage diseases. (nih.gov)
  • Lysosomal storage diseases are generally classified by the accumulated substrate and include the sphingolipidoses, oligosaccharidoses, mucolipidoses, mucopolysaccharidoses (MPSs), lipoprotein storage disorders, lysosomal transport defects, neuronal ceroid lipofuscinoses and others. (medscape.com)
  • Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases (such as Krabbe disease), including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses as well as peroxisome disorders such as X-linked adrenoleukodystrophy. (medscape.com)
  • A molecular understanding of membrane traffic has broad implications for our understanding of growth control in cancer, receptor trafficking errors in heart disease, regulation of insulin secretion in diabetes and synaptic vesicle biogenesis and transport in neurological disorders. (stanford.edu)
  • Some medical conditions such as kidney disease, type 2 diabetes, and thyroid disorders can also affect plasma triglyceride levels ( Pejic and Ledd 2006 ). (biocrates.com)
  • We help underinsured people with life-threatening, chronic, and rare diseases get the medications and treatments they need by assisting with their out-of-pocket costs and advocating for improved access and affordability. (panfoundation.org)
  • He has published extensively in top-rated journals and led numerous international clinical trials for treatment of rare diseases. (yalemedicine.org)
  • Lowering elevated total blood cholesterol levels and the levels of low-density lipoprotein cholesterol reduces the risk of heart attacks both in persons with a prior history of coronary disease and in asymptomatic individuals. (unboundmedicine.com)
  • Serum LDL-cholesterol levels were derived on examinees that were examined in the morning session only. (cdc.gov)
  • The distribution of serum LDL-cholesterol should be estimated only on examinees aged 12 and above who fasted at least 8.5 hours or more but less than 24 hours in the morning session. (cdc.gov)
  • About 1/3 of the cholesterol in serum is free cholesterol and 2/3 is cholesterol esters bound to fatty acids. (enzymes.bio)
  • Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases, including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses. (medscape.com)
  • Donald Sharp "Don" Fredrickson (August 8, 1924 - June 7, 2002) was an American medical researcher, principally of the lipid and cholesterol metabolism, and director of National Institutes of Health and subsequently the Howard Hughes Medical Institute. (wikipedia.org)
  • Initially, he worked with protein chemist and Nobel laureate Christian B. Anfinsen, and subsequently (with Daniel Steinberg) developed an interest in the metabolism of cholesterol and lipoproteins, as well as related medical conditions such as Niemann-Pick disease. (wikipedia.org)
  • Over the course of a decades-long progression of vascular disease, this LDL-associated process is interlinked with pro-inflammatory vascular tissue remodeling and the formation of atherosclerotic lesions. (fatsoflife.com)
  • For example, in familial hypercholesterolemia, enzymes do not receive the signals that typically inhibit cholesterol synthesis, so that excessive production of cholesterol occurs, leading to early coronary vascular disease and strokes in patients. (newworldencyclopedia.org)
  • The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. (nih.gov)
  • The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade. (nih.gov)
  • Late onset of a metabolic disease is often triggered by acute metabolic stresses, such as infection, fasting, or consumption of a nutrient for which a metabolic intolerance exists. (newworldencyclopedia.org)
  • Pectin has been shown to reduce cholesterol levels when eaten regularly over time because it binds bile acids from the intestine before they can be reabsorbed into circulation where they would otherwise cause inflammation throughout your body's tissues. (dailyinfographic.com)
  • Cells of the mononuclear phagocyte system are especially rich in lysosomes and thus are frequently affected by lysosomal storage diseases. (medscape.com)
  • He participated in the genetic elucidation of Tangier disease, which he had himself described in the 1960s. (wikipedia.org)
  • My research is focused on the discovery of novel treatments and mechanisms of genetic liver diseases, and developing biomarkers to monitor patients," he says. (yalemedicine.org)
  • LDL levels provide an indication of the excess energy obtained from dietary intake that has been converted to fatty acids and cholesterol by the liver. (fatsoflife.com)
  • Dietary fiber, which is found in snow peas, is undoubtedly one of the most talked about nutrients for health promotion and disease prevention (The George Maternal Foundation, Dietary fibers promote beneficial physiological detects including location, bal cholesterol attenuation and blood glucose attenuation or a combination of the three effects. (directcurrentmusic.com)
  • Pear pectin contains polyphenols called procyanidins which may help lower cholesterol levels by blocking bile acid absorption in the small intestine. (dailyinfographic.com)
  • They have a glycerol backbone bound to the esters of three fatty acids, and form following a condensation reaction. (biocrates.com)
  • The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. (nih.gov)
  • Degrees of cholesterol in the cell are preserved through de synthesis in the ER novo, and uptake of low-density lipoproteins (LDLs) produced from eating cholesterol. (cancercurehere.com)
  • His group also conducted the first trials of pharmacological cholesterol reduction in the prevention and treatment of cardiovascular disease. (wikipedia.org)
  • However, lowering LDL levels is a common clinical practice to reduce oxidation and the risk of major events in patients with cardiovascular diseases (CVD). (hindawi.com)
  • Cardiovascular diseases (CVD) are the leading cause of mortality in the Western population [ 1 ]. (hindawi.com)