A cholesterol derivative found in human feces, gallstones, eggs, and other biological matter.
An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.
A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.
Cholestanes substituted in any position with one or more hydroxy groups. They are found in feces and bile. In contrast to bile acids and salts, they are not reabsorbed.
A family of sterols commonly found in plants and plant oils. Alpha-, beta-, and gamma-isomers have been characterized.
Derivatives of the saturated steroid cholestane with methyl groups at C-18 and C-19 and an iso-octyl side chain at C-17.
Steroids with a hydroxyl group at C-3 and most of the skeleton of cholestane. Additional carbon atoms may be present in the side chain. (IUPAC Steroid Nomenclature, 1987)
A procedure consisting of the SURGICAL ANASTOMOSIS of the proximal part of the JEJUNUM to the distal portion of the ILEUM, so as to bypass the nutrient-absorptive segment of the SMALL INTESTINE. Due to the severe malnutrition and life-threatening metabolic complications, this method is no longer used to treat MORBID OBESITY.
An NAPH-dependent cytochrome P450 enzyme that catalyzes the oxidation of the side chain of sterol intermediates such as the 27-hydroxylation of 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol.
CHOLESTENES with one or more double bonds and substituted by any number of keto groups.
A class of organic compounds known as STEROLS or STEROIDS derived from plants.
The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.
A strongly basic anion exchange resin whose main constituent is polystyrene trimethylbenzylammonium Cl(-) anion.
An intermediate in the synthesis of cholesterol.
Steroid acids and salts. The primary bile acids are derived from cholesterol in the liver and usually conjugated with glycine or taurine. The secondary bile acids are further modified by bacteria in the intestine. They play an important role in the digestion and absorption of fat. They have also been used pharmacologically, especially in the treatment of gallstones.
Abnormal passage in any organ of the biliary tract or between biliary organs and other organs.
'Squalene' is a biologically occurring triterpene compound, naturally produced in humans, animals, and plants, that forms an essential part of the lipid-rich membranes in various tissues, including the skin surface and the liver, and has been studied for its potential benefits in skincare, dietary supplements, and vaccine adjuvant systems.
A membrane-bound cytochrome P450 enzyme that catalyzes the 7-alpha-hydroxylation of CHOLESTEROL in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP7, converts cholesterol to 7-alpha-hydroxycholesterol which is the first and rate-limiting step in the synthesis of BILE ACIDS.
Cytochrome P-450 monooxygenases (MIXED FUNCTION OXYGENASES) that are important in steroid biosynthesis and metabolism.
Steroids with methyl groups at C-10 and C-13 and a branched 8-carbon chain at C-17. Members include compounds with any degree of unsaturation; however, CHOLESTADIENES is available for derivatives containing two double bonds.
Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.
Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.
Fibrous bands or cords of CONNECTIVE TISSUE at the ends of SKELETAL MUSCLE FIBERS that serve to attach the MUSCLES to bones and other structures.
Unstable isotopes of carbon that decay or disintegrate emitting radiation. C atoms with atomic weights 10, 11, and 14-16 are radioactive carbon isotopes.
Fractionation of a vaporized sample as a consequence of partition between a mobile gaseous phase and a stationary phase held in a column. Two types are gas-solid chromatography, where the fixed phase is a solid, and gas-liquid, in which the stationary phase is a nonvolatile liquid supported on an inert solid matrix.
An oxidoreductase that catalyzes the conversion of 3-oxo-delta4 steroids into their corresponding 5alpha form. It plays an important role in the conversion of TESTOSTERONE into DIHYDROTESTOSTERONE and PROGESTERONE into DIHYDROPROGESTERONE.
A major primary bile acid produced in the liver and usually conjugated with glycine or taurine. It facilitates fat absorption and cholesterol excretion.
"Esters are organic compounds that result from the reaction between an alcohol and a carboxylic acid, playing significant roles in various biological processes and often used in pharmaceutical synthesis."
A microanalytical technique combining mass spectrometry and gas chromatography for the qualitative as well as quantitative determinations of compounds.
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
Cholesterol which is substituted by a hydroxy group in any position.

Serum sterols during stanol ester feeding in a mildly hypercholesterolemic population. (1/103)

We investigated the changes of cholesterol and non-cholesterol sterol metabolism during plant stanol ester margarine feeding in 153 hypercholesterolemic subjects. Rapeseed oil (canola oil) margarine without (n = 51) and with (n = 102) stanol (2 or 3 g/day) ester was used for 1 year. Serum sterols were analyzed with gas-liquid chromatography. The latter showed a small increase in sitostanol peak during stanol ester margarine eating. Cholestanol, campesterol, and sitosterol proportions to cholesterol were significantly reduced by 5-39% (P < 0.05 or less for all) by stanol esters; the higher their baseline proportions the higher were their reductions. The precursor sterol proportions were significantly increased by 10- 46%, and their high baseline levels predicted low reduction of serum cholesterol. The decrease of the scheduled stanol dose from 3 to 2 g/day after 6-month feeding increased serum cholesterol by 5% (P < 0. 001) and serum plant sterol proportions by 8-13% (P < 0.001), but had no consistent effect on precursor sterols. In twelve subjects, the 12-month level of LDL cholesterol exceeded that of baseline; the non-cholesterol sterol proportions suggested that stimulated synthesis with relatively weak absorption inhibition contributed to the non-responsiveness of these subjects. In conclusion, plant stanol ester feeding lowers serum cholesterol in about 88% of subjects, decreases the non-cholesterol sterols that reflect cholesterol absorption, increases the sterols that reflect cholesterol synthesis, but also slightly increases serum plant stanols. Low synthesis and high absorption efficiency of cholesterol results in the greatest benefit from stanol ester consumption.  (+info)

Highly simplified method for gas-liquid chromatographic quantitation of bile acids and sterols in human stool. (2/103)

A simple method for the gas-liquid chromatographic quantitation of human fecal bile acids and sterols is described where bile acids are subjected to n-butyl ester derivatization, without prior isolation from the stool, followed by trimethylsilylation of the sterols and bile acids. Under these conditions, bile acid derivatives are well resolved from each other and from the trimethylsilyl ether derivatives of fecal sterols and no overlap occurs. The method was shown to be highly reproducible and recoveries were similar to those obtained with other methods used for fecal bile acid analysis. Application of the method for bile acid and sterol analysis in human stool is described.  (+info)

Correlation of neomycin, faecal neutral and acid sterols with colon carcinogenesis in rats. (3/103)

High fat diets have been implicated in incidence of colon cancer both in epidemiological and animal studies. Present investigation deals with the incidence, location and numbers of large and small bowel tumours induced by 1,2-dimethyl hydrazine (DMH) in rats fed high fat diets and neomycin. Neomycin was used to modify the faecal sterol metabolism and the relationship of the high fat diet and faecal neutral and acid sterols to the large bowel tumorigenesis was evaluated. DMH administered rats were fed with (a) 20% safflower oil; (b) 20% safflower oil and neomycin; (c) 20% safflower oil, cholesterol and cholic acid; and (d) 20% safflower oil, cholesterol, cholic acid and neomycin. Neomycin was found to be associated with both increase and decrease of tumour numbers. The faecal sterols lithocholic and deoxycholic acids were found to have no participation, while cholesterol and cholic acid were found to decrease with increase in tumour numbers. However, faecal coprostanol has been found to have a significant positive correlation with tumorigenesis in all dietary groups. Therefore coprostanol might possibly be associated with colon carcinogenesis in DMH-fed rats and cholesterol metabolism in gut appears to be related to the development of tumours.  (+info)

Condensed complexes of cholesterol and phospholipids. (4/103)

Mixtures of dihydrocholesterol and phospholipids form immiscible liquids in monolayer membranes at the air-water interface under specified conditions of temperature and 2-dimensional pressure. In recent work it has been discovered that a number of these mixtures exhibit two upper miscibility critical points. Pairs of upper critical points can be accounted for by a theoretical model that implies the cooperative formation of molecular complexes of dihydrocholesterol and phospholipid molecules. These complexes are calculated to be present in the membranes both above and below the critical points. Below the critical points the complexes form a separate phase, whereas above the critical points the complexes are completely miscible with the other lipid components. The cooperativity of complex formation prompts the use of the terminology condensed complex.  (+info)

Electric field effect on cholesterol-phospholipid complexes. (5/103)

Monolayer mixtures of dihydrocholesterol and phospholipids at the air-water interface are used to model membranes containing cholesterol and phospholipids. Specific, stoichiometric interactions between cholesterol and some but not all phospholipids have been proposed to lead to the formation of condensed complexes. It is reported here that an externally applied electric field of the appropriate sign can destabilize these complexes, resulting in their dissociation. This is demonstrated through the application of an electric field gradient that leads to phase separations in otherwise homogeneous monolayers. This is observed only when the monolayer composition is close to the stoichiometry of the complex. The electric field effect is analyzed with the same mean field thermodynamic model as that used previously to account for pairs of upper miscibility critical points in these mixtures. The concentrations of dihydrocholesterol, phospholipid, and complex vary strongly and sometimes discontinuously in the monolayer membrane in the field gradient. The model is an approximation to a two-dimensional liquid in which molecules freely exchange between free and complexed form so that the chemical potentials are constant throughout the membrane. The calculations are illustrated for a complex of about 15 molecules, composed of 5 cholesterol molecules and 10 phospholipid molecules.  (+info)

Cholestanol induces apoptosis of corneal endothelial and lens epithelial cells. (6/103)

PURPOSE: To determine whether cholestanol induces cornea endothelial and lens epithelial cell death in vitro. METHODS: Cornea endothelial and lens epithelial cells were cultured in minimum essential media with 10% fetal bovine serum containing 10 microg/ml cholesterol in ethanol, 10 microg/ml cholestanol in ethanol, or 1% ethanol. These cells, stained using the terminal deoxynucleotidyl transferase (TdT) dUTP nick-end labeling (TUNEL) method, were analyzed by laser cytometer. The activities of ICE and CPP32 proteases in cells were also measured. RESULTS: Both cornea endothelial and lens epithelial cells cultured with 10 microg/ml cholestanol showed a significant loss of viability. The nuclei of these cells cultured with 10 microg/ml cholestanol were more frequently stained than those exposed to 10 microg/ml cholesterol or 1% ethanol. Quantitative analysis of apoptotic DNA fragmentation confirmed that the cholestanol induced apoptosis of these cells in a time-dependent manner. The activities of interleukin-1beta-converting enzyme (ICE) and CPP32 proteases for cells cultured with 10 microg/ml cholestanol were significantly higher than those observed in control cells. CONCLUSIONS: In vitro, cholestanol was taken up by corneal endothelial cells and lens epithelial cells, an event that led to apoptosis of these cells.  (+info)

Noncholesterol sterols and cholesterol lowering by long-term simvastatin treatment in coronary patients: relation to basal serum cholestanol. (7/103)

Coronary patients with low baseline ratios of serum cholestanol and plant sterols to cholesterol (indicating low cholesterol absorption) but not those with high ratios (high absorption) experienced reduced recurrences of coronary events during simvastatin treatment in the Scandinavian Simvastatin Survival Study. Thus, in the present study, serum cholesterol, its precursor sterols (reflecting cholesterol synthesis), plant sterols (campesterol and sitosterol), and cholestanol were measured before and during a 5-year period of placebo treatment (n=433) and simvastatin treatment (n=434) in patients from a subgroup of the Scandinavian Simvastatin Survival Study to determine whether changes in cholesterol synthesis and serum levels were related to cholesterol absorption. Serum cholesterol level was unchanged, the ratios of cholesterol precursor sterols to cholesterol were decreased, and the ratios of plant sterols to cholesterol were increased in relation to increasing baseline ratios of cholestanol quartiles. The latter predicted 5-year ratios and simvastatin-induced reductions of the precursor sterols, with the lowering of the ratios (cholesterol synthesis reduction) being almost twice higher in the lowest versus the highest quartile. The ratios of plant sterols, especially campesterol, to cholesterol were markedly increased during simvastatin treatment, mostly in subjects with the highest baseline cholestanol quartiles. Simvastatin reduced serum cholesterol more (P=0.003) in the lowest versus the highest cholestanol quartile during the 5-year treatment period. The results show for the first time that baseline cholesterol metabolism, measured by serum noncholesterol sterols, predicts the effectiveness of simvastatin in reducing cholesterol synthesis and serum levels of cholesterol. The drug suppresses the synthesis of cholesterol markedly more effectively in subjects with high than with low baseline synthesis but reduces respective serum cholesterol levels less markedly than synthesis. Subjects with high cholesterol absorption and low synthesis may need a combination therapy to lower more effectively their serum cholesterol levels and prevent an increase in the levels of plant sterols.  (+info)

Condensed complexes, rafts, and the chemical activity of cholesterol in membranes. (8/103)

Epifluorescence microscopy studies of mixtures of phospholipids and cholesterol at the air-water interface often exhibit coexisting liquid phases. The properties of these liquids point to the formation of "condensed complexes" between cholesterol and certain phospholipids, such as sphingomyelin. It is found that monolayers that form complexes can incorporate a low concentration of a ganglioside G(M1). This glycolipid is visualized by using a fluorescently labeled B subunit of cholera toxin. Three coexisting liquid phases are found by using this probe together with a fluorescent phospholipid probe. The three liquid phases are identified as a phospholipid-rich phase, a cholesterol-rich phase, and a condensed complex-rich phase. The cholera toxin B labeled ganglioside G(M1) is found exclusively in the condensed complex-rich phase. Condensed complexes are likely present in animal cell membranes, where they should facilitate the formation of specialized domains such as rafts. Condensed complexes also have a major effect in determining the chemical activity of cholesterol. It is suggested that this chemical activity plays an essential role in the regulation of cholesterol biosynthesis. Gradients in the chemical activity of cholesterol should likewise govern the rates and direction of intracellular intermembrane cholesterol transport.  (+info)

Cholestanol is a sterol that is similar in structure to cholesterol. It is produced in the body as a byproduct of cholesterol metabolism and can be found in various tissues, including the liver, blood, and nervous system.

Cholestanol is not normally present in large amounts in the body, but elevated levels can indicate the presence of certain genetic disorders or conditions that affect cholesterol metabolism, such as cerebrotendinous xanthomatosis (CTX). In CTX, mutations in the gene for the enzyme sterol 27-hydroxylase lead to an accumulation of cholestanol and other sterols in various tissues, which can cause a range of symptoms including neurological problems, cataracts, and tendon xanthomas (cholesterol deposits).

Elevated levels of cholestanol can also be found in some other conditions, such as liver disease or bile acid synthesis disorders. Therefore, measuring cholestanol levels in the blood may be useful as a diagnostic tool for these conditions.

Cerebrotendinous xanthomatosis is a rare inherited genetic disorder that affects the metabolism of cholesterol and bile acids. It is caused by mutations in the CYP27A1 gene, which provides instructions for making an enzyme called sterol 27-hydroxylase that plays a crucial role in the conversion of cholesterol to bile acids.

As a result of this enzyme deficiency, there is an accumulation of cholesterol and its derivatives (particularly cholestanol) in various tissues and body fluids, leading to the formation of xanthomas, which are yellowish, fatty deposits that can be found under the skin, around the eyes, or in tendons.

Cerebrotendinous xanthomatosis primarily affects the nervous system, particularly the brain (cerebro-) and the tendons (-tendinous). The neurological symptoms may include chronic diarrhea, seizures, intellectual disability, ataxia (loss of balance and coordination), psychiatric disorders, and pyramidal signs (such as muscle weakness, spasticity, and hyperreflexia).

The accumulation of cholestanol in the brain can lead to progressive neurological deterioration, while the tendon xanthomas are typically found in the Achilles tendons. The diagnosis of cerebrotendinous xanthomatosis is usually confirmed through genetic testing and biochemical tests that measure the levels of cholestanol and bile acids in the blood or other body fluids.

Early diagnosis and treatment with a medication called chenodeoxycholic acid, which helps to lower cholesterol levels and reduce xanthoma formation, can significantly improve the prognosis and quality of life for individuals with cerebrotendinous xanthomatosis.

Xanthomatosis is a medical term that refers to the condition characterized by the presence of xanthomas, which are yellowish, fat-laden deposits that form under the skin or in other tissues. These deposits consist of lipids, such as cholesterol and triglycerides, and immune cells called macrophages, which have engulfed the lipids.

Xanthomas can occur in various parts of the body, including the eyelids, tendons, joints, and other areas with connective tissue. They may appear as small papules or larger nodules, and their size and number can vary depending on the severity of the underlying disorder.

Xanthomatosis is often associated with genetic disorders that affect lipid metabolism, such as familial hypercholesterolemia, or with acquired conditions that cause high levels of lipids in the blood, such as diabetes, hypothyroidism, and certain liver diseases. Treatment typically involves addressing the underlying disorder and controlling lipid levels through dietary changes, medications, or a combination of both.

Cholestanols are a type of sterol that is similar in structure to cholesterol. They are found in small amounts in the body and can also be found in some foods. Cholestanols are formed when cholesterol undergoes a chemical reaction called isomerization, which changes its structure.

Cholestanols are important because they can accumulate in the body and contribute to the development of certain medical conditions. For example, elevated levels of cholestanols in the blood have been associated with an increased risk of cardiovascular disease. Additionally, some genetic disorders can cause an accumulation of cholestanols in various tissues, leading to a range of symptoms such as liver damage, neurological problems, and cataracts.

Medically, cholestanols are often used as markers for the diagnosis and monitoring of certain conditions related to cholesterol metabolism.

Sitosterols are a type of plant sterol or phytosterol that are structurally similar to cholesterol, a steroid lipid found in animals. They are found in small amounts in human diets, primarily in vegetable oils, nuts, seeds, and avocados. Sitosterols are not synthesized by the human body but can be absorbed from the diet and have been shown to lower cholesterol levels in the blood when consumed in sufficient quantities. This is because sitosterols compete with cholesterol for absorption in the digestive tract, reducing the amount of cholesterol that enters the bloodstream. Some margarines and other foods are fortified with sitosterols or other phytosterols to help reduce cholesterol levels in people with high cholesterol.

Cholestanes are a type of steroid compound that are derived from cholesterol. They are characterized by a fully saturated steroid nucleus, which means that all of the double bonds in the cholesterol molecule have been reduced to single bonds through a process called hydrogenation.

Cholestanes are important intermediates in the biosynthesis of other steroids, such as bile acids and steroid hormones. They can also be found in some natural sources, including certain plants and fungi.

It's worth noting that cholestanes themselves do not have any specific medical significance, but they are important for understanding the biochemistry of steroids and their role in human health and disease.

Sterols are a type of organic compound that is derived from steroids and found in the cell membranes of organisms. In animals, including humans, cholesterol is the most well-known sterol. Sterols help to maintain the structural integrity and fluidity of cell membranes, and they also play important roles as precursors for the synthesis of various hormones and other signaling molecules. Phytosterols are plant sterols that have been shown to have cholesterol-lowering effects in humans when consumed in sufficient amounts.

A jejunoileal bypass is a surgical procedure that was once used to treat morbid obesity, but it is now rarely performed due to the high risk of serious complications. This procedure involves dividing the small intestine into two parts: the proximal jejunum and the distal ileum. The proximal jejunum is then connected to the colon, bypassing a significant portion of the small intestine where nutrient absorption occurs.

The goal of this surgery was to reduce the amount of food and nutrients that could be absorbed, leading to weight loss. However, it was found that patients who underwent jejunoileal bypass were at risk for developing severe malnutrition, vitamin deficiencies, bone disease, kidney stones, and liver problems. Additionally, many patients experienced unpleasant side effects such as diarrhea, bloating, and foul-smelling stools. Due to these significant risks and limited benefits, jejunoileal bypass has largely been replaced by other weight loss surgeries such as gastric bypass and sleeve gastrectomy.

Cholestanetriol 26-monooxygenase is an enzyme that is involved in the metabolism of bile acids and steroids in the body. This enzyme is responsible for adding a hydroxyl group (-OH) to the cholestanetriol molecule at position 26, which is a critical step in the conversion of cholestanetriol to bile acids.

The gene that encodes this enzyme is called CYP3A4, which is located on chromosome 7 in humans. Mutations in this gene can lead to various metabolic disorders, including impaired bile acid synthesis and altered steroid hormone metabolism.

Deficiency or dysfunction of cholestanetriol 26-monooxygenase has been associated with several diseases, such as liver disease, cerebrotendinous xanthomatosis, and some forms of cancer. Therefore, understanding the function and regulation of this enzyme is essential for developing new therapies and treatments for these conditions.

Cholestenones are a group of steroid compounds that are derived from cholesterol. They include several biologically important compounds, such as bile acids and their intermediates, which play crucial roles in the digestion and absorption of fats and fat-soluble vitamins. Cholestenones are also used as intermediates in the synthesis of various steroid hormones, including cortisol, aldosterone, and sex hormones.

Cholestenones are characterized by a carbon skeleton consisting of four fused rings, with a double bond between the second and third carbons and a ketone group at the third carbon atom. Some examples of cholestenones include 7-dehydrocholesterol, which is a precursor to vitamin D, and desmosterol, which is an intermediate in the biosynthesis of cholesterol.

It's worth noting that while cholestenones are important biomolecules, they can also accumulate in various tissues and fluids under certain pathological conditions, such as in some inherited metabolic disorders. For example, elevated levels of certain cholestenones in the blood or urine may indicate the presence of Smith-Lemli-Opitz syndrome, a genetic disorder that affects cholesterol biosynthesis.

Phytosterols are a type of plant-derived sterol that have a similar structure to cholesterol, a compound found in animal products. They are found in small quantities in many fruits, vegetables, nuts, seeds, legumes, and vegetable oils. Phytosterols are known to help lower cholesterol levels by reducing the absorption of dietary cholesterol in the digestive system.

In medical terms, phytosterols are often referred to as "plant sterols" or "phytostanols." They have been shown to have a modest but significant impact on lowering LDL (or "bad") cholesterol levels when consumed in sufficient quantities, typically in the range of 2-3 grams per day. As a result, foods fortified with phytosterols are sometimes recommended as part of a heart-healthy diet for individuals with high cholesterol or a family history of cardiovascular disease.

It's worth noting that while phytosterols have been shown to be safe and effective in reducing cholesterol levels, they should not be used as a substitute for other lifestyle changes such as regular exercise, smoking cessation, and weight management. Additionally, individuals with sitosterolemia, a rare genetic disorder characterized by an abnormal accumulation of plant sterols in the body, should avoid consuming foods fortified with phytosterols.

Cholesterol is a type of lipid (fat) molecule that is an essential component of cell membranes and is also used to make certain hormones and vitamins in the body. It is produced by the liver and is also obtained from animal-derived foods such as meat, dairy products, and eggs.

Cholesterol does not mix with blood, so it is transported through the bloodstream by lipoproteins, which are particles made up of both lipids and proteins. There are two main types of lipoproteins that carry cholesterol: low-density lipoproteins (LDL), also known as "bad" cholesterol, and high-density lipoproteins (HDL), also known as "good" cholesterol.

High levels of LDL cholesterol in the blood can lead to a buildup of cholesterol in the walls of the arteries, increasing the risk of heart disease and stroke. On the other hand, high levels of HDL cholesterol are associated with a lower risk of these conditions because HDL helps remove LDL cholesterol from the bloodstream and transport it back to the liver for disposal.

It is important to maintain healthy levels of cholesterol through a balanced diet, regular exercise, and sometimes medication if necessary. Regular screening is also recommended to monitor cholesterol levels and prevent health complications.

Cholestyramine resin is a medication used to treat high levels of cholesterol in the blood. It is a type of drug called a bile acid sequestrant, which works by binding to bile acids in the digestive system and preventing them from being reabsorbed into the body. This leads to an increased removal of cholesterol from the body, which can help lower the levels of cholesterol in the blood.

Cholestyramine resin is available as a powder that is mixed with water or other fluids and taken by mouth. It may be used alone or in combination with other medications to treat high cholesterol. In addition to its use for lowering cholesterol, cholestyramine resin may also be used to treat itching associated with partial biliary obstruction (blockage of the bile ducts) and to reduce the absorption of certain drugs, such as digitalis and thyroid hormones.

It is important to follow the instructions of a healthcare provider when taking cholestyramine resin, as the medication can interfere with the absorption of other medications and nutrients. It may also cause gastrointestinal side effects, such as constipation, bloating, and gas.

Desmosterol is a sterol, which is a type of lipid molecule similar to cholesterol. It is an intermediate in the biosynthetic pathway that leads to the production of cholesterol in the body. Specifically, desmosterol is produced from 7-dehydrocholesterol and is then converted to cholesterol through a series of additional steps.

Desmosterol is found in small amounts in various tissues throughout the body, including the brain, where it plays important roles in maintaining cell membrane structure and function. However, abnormal accumulations of desmosterol have been associated with certain genetic disorders, such as desmosterolosis and lathosterolosis, which are characterized by developmental delays, cataracts, and other neurological symptoms.

It's worth noting that while desmosterol is an important molecule in the body, it is not typically measured or monitored in a clinical setting unless there is a specific reason to suspect a problem with its metabolism.

Bile acids and salts are naturally occurring steroidal compounds that play a crucial role in the digestion and absorption of lipids (fats) in the body. They are produced in the liver from cholesterol and then conjugated with glycine or taurine to form bile acids, which are subsequently converted into bile salts by the addition of a sodium or potassium ion.

Bile acids and salts are stored in the gallbladder and released into the small intestine during digestion, where they help emulsify fats, allowing them to be broken down into smaller molecules that can be absorbed by the body. They also aid in the elimination of waste products from the liver and help regulate cholesterol metabolism.

Abnormalities in bile acid synthesis or transport can lead to various medical conditions, such as cholestatic liver diseases, gallstones, and diarrhea. Therefore, understanding the role of bile acids and salts in the body is essential for diagnosing and treating these disorders.

A biliary fistula is an abnormal connection or passage between the biliary system (which includes the gallbladder, bile ducts, and liver) and another organ or structure, usually in the abdominal cavity. This connection allows bile, which is a digestive fluid produced by the liver, to leak out of its normal pathway and into other areas of the body.

Biliary fistulas can occur as a result of trauma, surgery, infection, or inflammation in the biliary system. Symptoms may include abdominal pain, fever, jaundice (yellowing of the skin and eyes), nausea, vomiting, and clay-colored stools. Treatment typically involves addressing the underlying cause of the fistula, such as draining an infection or repairing damaged tissue, and diverting bile flow away from the site of the leak. In some cases, surgery may be necessary to repair the fistula.

Squalene is a organic compound that is a polyunsaturated triterpene. It is a natural component of human skin surface lipids and sebum, where it plays a role in maintaining the integrity and permeability barrier of the stratum corneum. Squalene is also found in various plant and animal tissues, including olive oil, wheat germ oil, and shark liver oil.

In the body, squalene is an intermediate in the biosynthesis of cholesterol and other sterols. It is produced in the liver and transported to other tissues via low-density lipoproteins (LDLs). Squalene has been studied for its potential health benefits due to its antioxidant properties, as well as its ability to modulate immune function and reduce the risk of certain types of cancer. However, more research is needed to confirm these potential benefits.

Cholesterol 7-alpha-hydroxylase (CYP7A1) is an enzyme that plays a crucial role in the regulation of cholesterol homeostasis in the body. It is located in the endoplasmic reticulum of hepatic cells and is responsible for the rate-limiting step in the synthesis of bile acids from cholesterol.

The enzyme catalyzes the conversion of cholesterol to 7α-hydroxycholesterol, which is then further metabolized to form primary bile acids, including cholic acid and chenodeoxycholic acid. These bile acids are essential for the digestion and absorption of fats and fat-soluble vitamins in the small intestine.

Additionally, CYP7A1 is also involved in the regulation of cholesterol levels in the body by providing negative feedback to the synthesis of cholesterol in the liver. When cholesterol levels are high, the activity of CYP7A1 increases, leading to an increase in bile acid synthesis and a decrease in cholesterol levels. Conversely, when cholesterol levels are low, the activity of CYP7A1 decreases, reducing bile acid synthesis and allowing cholesterol levels to rise.

Abnormalities in CYP7A1 function have been implicated in several diseases, including gallstones, liver disease, and cardiovascular disease.

Steroid hydroxylases are enzymes that catalyze the addition of a hydroxyl group (-OH) to a steroid molecule. These enzymes are located in the endoplasmic reticulum and play a crucial role in the biosynthesis of various steroid hormones, such as cortisol, aldosterone, and sex hormones. The hydroxylation reaction catalyzed by these enzymes increases the polarity and solubility of steroids, allowing them to be further metabolized and excreted from the body.

The most well-known steroid hydroxylases are part of the cytochrome P450 family, specifically CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, and CYP21A2. Each enzyme has a specific function in steroid biosynthesis, such as converting cholesterol to pregnenolone (CYP11A1), hydroxylating the 11-beta position of steroids (CYP11B1 and CYP11B2), or performing multiple hydroxylation reactions in the synthesis of sex hormones (CYP17A1, CYP19A1, and CYP21A2).

Defects in these enzymes can lead to various genetic disorders, such as congenital adrenal hyperplasia, which is characterized by impaired steroid hormone biosynthesis.

Cholestenes are a type of steroid that is characterized by having a double bond between the second and third carbon atoms in the steroid nucleus. They are precursors to cholesterol, which is an essential component of cell membranes and a precursor to various hormones and bile acids. Cholestenes can be found in some foods, but they are also synthesized in the body from other steroids.

Cholestenes are not typically referred to in medical terminology, as the term is more commonly used in biochemistry and organic chemistry. However, abnormal levels of cholestenes or related compounds may be detected in certain medical tests, such as those used to diagnose liver or gallbladder disorders.

Metabolic brain diseases refer to a group of conditions that are caused by disruptions in the body's metabolic processes, which affect the brain. These disorders can be inherited or acquired and can result from problems with the way the body produces, breaks down, or uses energy and nutrients.

Examples of metabolic brain diseases include:

1. Mitochondrial encephalomyopathies: These are a group of genetic disorders that affect the mitochondria, which are the energy-producing structures in cells. When the mitochondria don't function properly, it can lead to muscle weakness, neurological problems, and developmental delays.
2. Leukodystrophies: These are a group of genetic disorders that affect the white matter of the brain, which is made up of nerve fibers covered in myelin, a fatty substance that insulates the fibers and helps them transmit signals. When the myelin breaks down or is not produced properly, it can lead to cognitive decline, motor problems, and other neurological symptoms.
3. Lysosomal storage disorders: These are genetic disorders that affect the lysosomes, which are structures in cells that break down waste products and recycle cellular materials. When the lysosomes don't function properly, it can lead to the accumulation of waste products in cells, including brain cells, causing damage and neurological symptoms.
4. Maple syrup urine disease: This is a genetic disorder that affects the way the body breaks down certain amino acids, leading to a buildup of toxic levels of these substances in the blood and urine. If left untreated, it can cause brain damage, developmental delays, and other neurological problems.
5. Homocystinuria: This is a genetic disorder that affects the way the body processes an amino acid called methionine, leading to a buildup of homocysteine in the blood. High levels of homocysteine can cause damage to the blood vessels and lead to neurological problems, including seizures, developmental delays, and cognitive decline.

Treatment for metabolic brain diseases may involve dietary changes, supplements, medications, or other therapies aimed at managing symptoms and preventing further damage to the brain. In some cases, a stem cell transplant may be recommended as a treatment option.

Brain diseases, also known as neurological disorders, refer to a wide range of conditions that affect the brain and nervous system. These diseases can be caused by various factors such as genetics, infections, injuries, degeneration, or structural abnormalities. They can affect different parts of the brain, leading to a variety of symptoms and complications.

Some examples of brain diseases include:

1. Alzheimer's disease - a progressive degenerative disorder that affects memory and cognitive function.
2. Parkinson's disease - a movement disorder characterized by tremors, stiffness, and difficulty with coordination and balance.
3. Multiple sclerosis - a chronic autoimmune disease that affects the nervous system and can cause a range of symptoms such as vision loss, muscle weakness, and cognitive impairment.
4. Epilepsy - a neurological disorder characterized by recurrent seizures.
5. Brain tumors - abnormal growths in the brain that can be benign or malignant.
6. Stroke - a sudden interruption of blood flow to the brain, which can cause paralysis, speech difficulties, and other neurological symptoms.
7. Meningitis - an infection of the membranes surrounding the brain and spinal cord.
8. Encephalitis - an inflammation of the brain that can be caused by viruses, bacteria, or autoimmune disorders.
9. Huntington's disease - a genetic disorder that affects muscle coordination, cognitive function, and mental health.
10. Migraine - a neurological condition characterized by severe headaches, often accompanied by nausea, vomiting, and sensitivity to light and sound.

Brain diseases can range from mild to severe and may be treatable or incurable. They can affect people of all ages and backgrounds, and early diagnosis and treatment are essential for improving outcomes and quality of life.

A tendon is the strong, flexible band of tissue that connects muscle to bone. It helps transfer the force produced by the muscle to allow various movements of our body parts. Tendons are made up of collagen fibers arranged in parallel bundles and have a poor blood supply, making them prone to injuries and slow to heal. Examples include the Achilles tendon, which connects the calf muscle to the heel bone, and the patellar tendon, which connects the kneecap to the shinbone.

Carbon radioisotopes are radioactive isotopes of carbon, which is an naturally occurring chemical element with the atomic number 6. The most common and stable isotope of carbon is carbon-12 (^12C), but there are also several radioactive isotopes, including carbon-11 (^11C), carbon-14 (^14C), and carbon-13 (^13C). These radioisotopes have different numbers of neutrons in their nuclei, which makes them unstable and causes them to emit radiation.

Carbon-11 has a half-life of about 20 minutes and is used in medical imaging techniques such as positron emission tomography (PET) scans. It is produced by bombarding nitrogen-14 with protons in a cyclotron.

Carbon-14, also known as radiocarbon, has a half-life of about 5730 years and is used in archaeology and geology to date organic materials. It is produced naturally in the atmosphere by cosmic rays.

Carbon-13 is stable and has a natural abundance of about 1.1% in carbon. It is not radioactive, but it can be used as a tracer in medical research and in the study of metabolic processes.

Chromatography, gas (GC) is a type of chromatographic technique used to separate, identify, and analyze volatile compounds or vapors. In this method, the sample mixture is vaporized and carried through a column packed with a stationary phase by an inert gas (carrier gas). The components of the mixture get separated based on their partitioning between the mobile and stationary phases due to differences in their adsorption/desorption rates or solubility.

The separated components elute at different times, depending on their interaction with the stationary phase, which can be detected and quantified by various detection systems like flame ionization detector (FID), thermal conductivity detector (TCD), electron capture detector (ECD), or mass spectrometer (MS). Gas chromatography is widely used in fields such as chemistry, biochemistry, environmental science, forensics, and food analysis.

Cholestenone 5 alpha-reductase is an enzyme that plays a role in the conversion of cholesterol and other steroid hormones in the body. Specifically, it catalyzes the reduction of 5,7-dihydroxycholest-4-en-3-one (also known as cholestenone) to 5α-androstan-3α,17β-diol, which is a precursor to the male sex hormone testosterone.

This enzyme is found in various tissues throughout the body, including the prostate gland, skin, and liver. In the prostate gland, 5 alpha-reductase helps regulate the growth and function of the gland by converting testosterone to dihydrotestosterone (DHT), a more potent form of the hormone.

Inhibitors of 5 alpha-reductase are sometimes used as medications to treat conditions such as benign prostatic hyperplasia (BPH) and male pattern baldness, as reducing DHT levels can help alleviate symptoms associated with these conditions.

Cholic acid is a primary bile acid, which is a type of organic compound that plays a crucial role in the digestion and absorption of fats and fat-soluble vitamins in the body. It is produced in the liver from cholesterol and is then conjugated with glycine or taurine to form conjugated bile acids, which are stored in the gallbladder and released into the small intestine during digestion.

Cholic acid helps to emulsify fats, allowing them to be broken down into smaller droplets that can be absorbed by the body. It also facilitates the absorption of fat-soluble vitamins such as vitamin A, D, E, and K. In addition to its role in digestion, cholic acid is also involved in the regulation of cholesterol metabolism and the excretion of bile acids from the body.

Abnormalities in cholic acid metabolism can lead to various medical conditions, such as cholestatic liver diseases, gallstones, and genetic disorders that affect bile acid synthesis.

Esters are organic compounds that are formed by the reaction between an alcohol and a carboxylic acid. They are widely found in nature and are used in various industries, including the production of perfumes, flavors, and pharmaceuticals. In the context of medical definitions, esters may be mentioned in relation to their use as excipients in medications or in discussions of organic chemistry and biochemistry. Esters can also be found in various natural substances such as fats and oils, which are triesters of glycerol and fatty acids.

Gas Chromatography-Mass Spectrometry (GC-MS) is a powerful analytical technique that combines the separating power of gas chromatography with the identification capabilities of mass spectrometry. This method is used to separate, identify, and quantify different components in complex mixtures.

In GC-MS, the mixture is first vaporized and carried through a long, narrow column by an inert gas (carrier gas). The various components in the mixture interact differently with the stationary phase inside the column, leading to their separation based on their partition coefficients between the mobile and stationary phases. As each component elutes from the column, it is then introduced into the mass spectrometer for analysis.

The mass spectrometer ionizes the sample, breaks it down into smaller fragments, and measures the mass-to-charge ratio of these fragments. This information is used to generate a mass spectrum, which serves as a unique "fingerprint" for each compound. By comparing the generated mass spectra with reference libraries or known standards, analysts can identify and quantify the components present in the original mixture.

GC-MS has wide applications in various fields such as forensics, environmental analysis, drug testing, and research laboratories due to its high sensitivity, specificity, and ability to analyze volatile and semi-volatile compounds.

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.

Hydroxycholesterols are a type of sterol that is formed in the body when cholesterol, a steroid alcohol, undergoes hydroxylation. This means that one or more hydroxyl groups (-OH) are added to the cholesterol molecule. There are several different types of hydroxycholesterols, including 24-hydroxycholesterol, 25-hydroxycholesterol, and 27-hydroxycholesterol, among others. These compounds play important roles in various physiological processes, such as regulating cholesterol metabolism and contributing to the formation of bile acids. They have also been studied for their potential involvement in atherosclerosis, Alzheimer's disease, and other health conditions.

Hydrolysis of this ester gave cholestanol 39. The route from cholestanol to cholesterol was already known (see: Robinson ... The conversion of cholestanol to cholesterol was already demonstrated by oxidation of the ketone, bromination to the ... 7 and then to allopregnanolone 8 allowed the addition of the tail group as the acetate in 9 and then conversion to cholestanol ...
An inherited disorder associated with the deposition of a steroid known as cholestanol in the brain and other tissues and with ... Elevated levels of serum cholestanol are diagnostic of CTX. Alternatively analysis of 27-hydroxycholesterol and 7 alpha ...
"Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1)". ...
5α-cholestanol is formed naturally in the environment by bacteria and generally does not have a faecal origin. Samples with ... As well as the faecally derived stanol, two other isomers can be identified in the environment; 5α-cholestanol 5β-coprostanol ... This reaction occurs principally in anaerobic reducing sediments and the 5α-cholestanol / cholesterol ratio may be used as a ... In the environment, bacteria preferentially produce 5α-cholestan-3β-ol (5α-cholestanol) from cholesterol rather than the 5β ...
Cholestanol, cholesterol, androsterone, Δ4-3α-hydroxy-17-ketoandrostene, 5β,3α-hydroxy-17-ketoandrostane, 5α,3β,17α- ...
... some of which are unique tracers of dung combustion such as cholestanol and coprostanol. Dung cakes are generally a higher ...
... cholestanol MeSH D10.570.938.208.222 - cholesterol, dietary MeSH D10.570.938.208.250 - cholesterol esters MeSH D10.570.938.208. ...
... cholestanol MeSH D04.808.247.808.197.200 - cholesterol esters MeSH D04.808.247.808.197.250 - dehydrocholesterols MeSH D04.808. ... cholestanol MeSH D04.808.247.125 - cholestanones MeSH D04.808.247.222 - cholestenes MeSH D04.808.247.222.159 - cholecalciferol ...
cholestanol-d5 Avanti Polar Lipids; CAS Number: 2260669-14-3; Synonyms: 111020; find Avanti-700094P MSDS, related peer-reviewed ... Cholestanol-d5 is a deuterated form of cholestanol. Cholestanol is a plant saturated sterol and has Δ5 double bond to the 5α ... Cholestanol-d5 is useful as an internal standard to spike sediment samples for tandem mass spectrometry (MS/MS) for fecal ... Large amounts of cholestanol, the 5 alpha-dihydro derivative of cholesterol are found in tissues of patients with the rare ...
A molecule called cholestanol, which is similar to cholesterol, is produced as well as substances called bile alcohols. ... Cholestanol and bile alcohols are increased in the blood, while blood cholesterol levels are typically normal. In various ... Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and tissue deposition. J Lipid ... The accumulation of cholesterol and cholestanol throughout the bodys tissues causes the signs and symptoms of cerebrotendinous ...
Hydrolysis of this ester gave cholestanol 39. The route from cholestanol to cholesterol was already known (see: Robinson ... The conversion of cholestanol to cholesterol was already demonstrated by oxidation of the ketone, bromination to the ... 7 and then to allopregnanolone 8 allowed the addition of the tail group as the acetate in 9 and then conversion to cholestanol ...
Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation ...
WHEATON® liquid scintillation vial with seperate unlined PE cap transparent high-density polyethylene bottle, capacity (20 mL), screw cap, case of 1,000 ea Bulk packed vials with screw caps in separate bag; find -DWK986724 MSDS, related peer-reviewed papers, technical documents, similar products & more at Sigma-Aldrich
Cholestanol is formed in a pathway from the bile acid precursor 7-alpha-hydroxy-4-cholesten-3-one. [12] Deposition of ... The storage of cholestanol within the nervous system. Arch Neurol. 1968 Jul. 19(1):47-53. [QxMD MEDLINE Link]. ... Salen G. Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. Ann Intern Med. 1971 Dec. 75(6):843-51 ... Skrede S, Björkhem I, Buchmann MS, Hopen G, Fausa O. A novel pathway for biosynthesis of cholestanol with 7 alpha-hydroxylated ...
An elegant technology for ultrasensitive impedimetric and voltammetric determination of cholestanol based on a novel ...
Ratio between coprostanol and cholestanol (5β/5β+5α) in the Rodrigo de Freitas Lagoon per site during the dry and wet seasons ... Figure 4 Ratio between coprostanol and cholestanol (5β/5β+5α) in the Rodrigo de Freitas Lagoon per site during the dry and wet ... Ratio between coprostanol and cholestanol (5β/5β+5α) in the Rodrigo de Freitas Lagoon per site during the dry and wet seasons ... 1990, 24, 357. established the use of coprostanol to cholestanol ratio (5β/5β + 5α) to evaluate the influence of domestic ...
The level of cholestanol is diagnostic for the disorder Cerebrotendinous xanthomatosis. The build up of cholestanol in tendon ... Cholestanol. Normal: 3-16 mmol/L. Affected Range: 33 - 386 mmol/L. Cholesterol. Normal: 600 - 6500 mmol/L (all ages). 7- ... Measuring plasma levels of Cholestanol, Cholesterol and 7-Dehydrocholesterol. * ...
Cholestanol is formed in a pathway from the bile acid precursor 7-alpha-hydroxy-4-cholesten-3-one. [12] Deposition of ... The storage of cholestanol within the nervous system. Arch Neurol. 1968 Jul. 19(1):47-53. [QxMD MEDLINE Link]. ... Salen G. Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. Ann Intern Med. 1971 Dec. 75(6):843-51 ... Skrede S, Björkhem I, Buchmann MS, Hopen G, Fausa O. A novel pathway for biosynthesis of cholestanol with 7 alpha-hydroxylated ...
Analysis by reverse transcription-PCR reveals that DES5A is transcribed both in the presence and absence of cholestanol in wild ... The decreased desaturation activity is specific for the C-5(6) position of lathosterol and cholestanol; other desaturations, ...
Other investigations based on clinical evaluation included serum cholestanol, lipid profile, apolipoproteins, white cell ...
... cholesterol and cholestanol. PAH were estimated ...
... resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid... ...
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Cholestanol. Cholesterol. Sitosterol OH. 0. Testosterone. Estrone ON. H 0. Ecdysone FIG. 1.. Structures o f some c o m m o n ... Cholesterol Cholestanol Lathosterol 24-methylcholesta-5,22-dienol 24-methylenecholesterol Campesterol Campestanol Stigmasterol ... Cholesterol 7-dehydrocholesterol Lathosterol Cholesta-5,7,9(11)-trienol Cholest-8(14)-enol Cholestanol Cholesta-5,7,24-trienol ... cholestanol, Fig. 1). Plant sterols differ from animal sterols in that the former usually possess an alkyl (i.e., methyl or ...
On the substrate specificity of human CYP27A1: implications for bile acid and cholestanol formation Norlin, Maria; von Bahr, ... DOI för On the substrate specificity of human CYP27A1: implications for bile acid and cholestanol formation ...
TOYOBO Biochemical Departments Enzyme Diagnostic reagent grade. - COO-331, Cholesterol oxidase
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral ... Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous ...
The storage of cholestanol within the nervous system. Arch Neurol. 1968 Jul. 19(1):47-53. [QxMD MEDLINE Link]. ... Salen G. Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. Ann Intern Med. 1971 Dec. 75(6):843-51 ... Skrede S, Björkhem I, Buchmann MS, Hopen G, Fausa O. A novel pathway for biosynthesis of cholestanol with 7 alpha-hydroxylated ... Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and tissue deposition. J Lipid ...
Cholestanol and apolipoprotein B, CSF (increased). Nerve conduction studies AD = autosomal dominant; AR = autosomal recessive; ... Cholestanol and bile alcohols, plasma (increased). Cholesterol and chenodeoxycholic acid, plasma (decreased). Molecular testing ... Inactive sterol 27-hydroxylase protein leads to increased production of cholestanol. AR. Pyramidal and/or cerebellar signs, SP ...
Cholestanol is formed in a pathway from the bile acid precursor 7-alpha-hydroxy-4-cholesten-3-one. [11] Deposition of ... The storage of cholestanol within the nervous system. Arch Neurol. 1968 Jul. 19(1):47-53. [QxMD MEDLINE Link]. ... Salen G. Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. Ann Intern Med. 1971 Dec. 75(6):843-51 ... Skrede S, Björkhem I, Buchmann MS, Hopen G, Fausa O. A novel pathway for biosynthesis of cholestanol with 7 alpha-hydroxylated ...
The storage of cholestanol within the nervous system. Arch Neurol. 1968;19 (1): 47-53. [Pubmed].. 5. Salen G. Cholestanol ... Liver enzymes and a lipid panel found no abnormalities except for an elevated cholestanol level of 25.8 ug/mL (normal value is ... Diagnosis depends on elevated serum cholestanol levels. MRI shows evidence of cerebral and cerebellar atrophy. T2-weighted ... 6. Salen G, Meriwether TW, Nicolau G. Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in ...
Keywords: Cerebrotendinous xanthomatosis, Novel mutation, Pediatrics, Cholestanol, CHOLESTASIS, MUTATIONS, GENETICS * Eskisehir ... No significant difference was determined between pediatric patients and adult patients regarding plasma cholestanol ...
The effect of ultraviolet radiation from a novel portable fluorescent lamp on serum 25-hydroxyvitamin D3 levels in healthy adults with Fitzpatrick skin types II and III. Photodermatol Photoimmunol Photomed. 2012 Dec; 28(6):307-11 ...
After CDCA treatment, serum cholestanol decreased to normal concentrations in all patients. Clinical picture was unchanged in ... After CDCA treatment, serum cholestanol decreased to normal concentrations in all patients. Clinical picture was unchanged in ... assessment of serum cholestanol and TMS. Nine patients who started CDCA therapy at baseline received clinical and ... assessment of serum cholestanol and TMS. Nine patients who started CDCA therapy at baseline received clinical and ...
This disorder occurs when cholestanol, a product of cholesterol metabolism, accumulates in tissues. This disease eventually ...
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral ...
Blood tests confirmed elevated serum cholestanol and/or cholesterol with increased urinary bile alcohols. This case series ... recessive metabolic disorder caused by an enzyme deficiency that results in accumulation of cholesterol and cholestanol in body ... showed that serum cholesterol can be normal but cholestanol is always elevated. ...
  • The levels of cholesterol and cholestanol are elevated in tendons and brain in cerebrotendinous xanthomatosis due to the CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1) deficiency. (sigmaaldrich.com)
  • Cholestanol is a cholesterol absorption biomarker. (sigmaaldrich.com)
  • A molecule called cholestanol, which is similar to cholesterol, is produced as well as substances called bile alcohols. (medlineplus.gov)
  • Cholestanol and bile alcohols are increased in the blood, while blood cholesterol levels are typically normal. (medlineplus.gov)
  • In various tissues in the body, including the brain and heart, cholesterol and cholestanol levels are increased. (medlineplus.gov)
  • The accumulation of cholesterol and cholestanol throughout the body's tissues causes the signs and symptoms of cerebrotendinous xanthomatosis. (medlineplus.gov)
  • The conversion of cholestanol to cholesterol was already demonstrated by oxidation of the ketone, bromination to the bromoketone and elimination to the enone. (wikipedia.org)
  • Water and sediment samples were takes near the sewage discharge point on the eastern Red Sea Coast of Jeddah and analyzed for PAH and fecal sterols like coprostanol, cholesterol and cholestanol. (org.in)
  • Salen G, Meriwether TW, Nicolau G. Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis. (medscape.com)
  • [ 11 ] Deposition of cholestanol and cholesterol in the CNS (the brain and spinal cord), muscle (including the heart), blood vessels, eye, and tendon results in a degenerative process that worsens over time unless treated. (medscape.com)
  • Exogenous administration reduces high levels of cholesterol and cholestanol in the CSF, tissues, and plasma with improvement in mental function and signs of peripheral neuropathy and cerebellar dysfunction. (arizona.edu)
  • Serum non-cholesterol sterols, cholestanol and plant sterols, campesterol and sitosterol, are known to positively reflect cholesterol absorption and negatively cholesterol synthesis. (archive.org)
  • The deficiency leads to increased deposition of cholesterol and cholestanol in various tissues, while simultaneously makes the structural and functional changes of cells and tissues. (amedi.sk)
  • Xanthomatosis is a metabolic disease in which deposits of lipids, mainly cholesterol and cholestanol (xanthomas), form on the surface of the skin and in some other tissues. (medic-journal.com)
  • The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid (CDCA), increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid. (amazonaws.com)
  • Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a deficiency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid. (koreamed.org)
  • Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis. (bvsalud.org)
  • Salen G. Cholestanol deposition in cerebrotendinous xanthomatosis. (medscape.com)
  • Skrede S, Björkhem I, Buchmann MS, Hopen G, Fausa O. A novel pathway for biosynthesis of cholestanol with 7 alpha-hydroxylated C27-steroids as intermediates, and its importance for the accumulation of cholestanol in cerebrotendinous xanthomatosis. (medscape.com)
  • On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis. (medscape.com)
  • Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and tissue deposition. (medscape.com)
  • Cerebrotendinous xanthomatosis (CTX) is a rare neurometabolic disease due to defective activity of sterol 27-hydroxylase, with plasma and tissue cholestanol storage. (unimib.it)
  • Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts. (cdc.gov)
  • Twenty-four CTX patients underwent clinical evaluation including general disability scores, pyramidal and cerebellar function scales, assessment of serum cholestanol and TMS. (unimib.it)
  • After CDCA treatment, serum cholestanol decreased to normal concentrations in all patients. (unimib.it)
  • GuayuDanielito, serum cholestanol, k Rash, tadalafil must not be incorporated with various other prescribed or overthecounter medications you are taking currently. (brandknewmag.com)
  • [ 12 ] Deposition of cholestanol and other intermediate metabolites in the CNS (the brain and spinal cord), muscle (including the heart), blood vessels, eyes, and tendons results in progressive dysfunction unless treatment is initiated to prevent further accumulation of toxic metabolites. (medscape.com)
  • Separation of β-cholestanol (I.S), campesterol, stigmasterol and β-sitosterol was achieved on Rxi (5Sil MS) column (60 m×0.25 mm). (agrifoodscience.com)
  • A recent EPA study of 84 sludge samples from around the country found 27 metals, three pharmaceuticals (Ciprofloxacin, Diphenhydramine and Triclocarban), four anions (nitrates/nitrites, fluoride and water-extractable phosphorus), three steroids (Campesterol, Cholestanol and Coprostanol), and a number of toxic flame-retardants in nearly every single sample tested. (alternet.org)
  • In the absence of the key enzyme, sterol 27-hydroxylase, other metabolites are increased such as cholestanol. (faoj.org)
  • Cholestanol deuterated has been administered in small intestine samples for the quantification of sterols by gas chromatography-mass spectrometry. (sigmaaldrich.com)
  • The result is reduced bile acid synthesis and increased levels of cholestanol in plasma, tissues, and CSF. (arizona.edu)
  • Cholestanol-d5 is useful as an internal standard to spike sediment samples for tandem mass spectrometry (MS/MS) for fecal sterol quantification. (sigmaaldrich.com)
  • Cholestanol is formed in a pathway from the bile acid precursor 7-alpha-hydroxy-4-cholesten-3-one. (medscape.com)
  • No significant difference was determined between pediatric patients and adult patients regarding plasma cholestanol concentration at diagnosis (p = 0.482). (ogu.edu.tr)
  • The storage of cholestanol within the nervous system. (medscape.com)
  • Liver enzymes and a lipid panel found no abnormalities except for an elevated cholestanol level of 25.8 ug/mL (normal value is 4.2 +/- 1.2 ug/mL). (faoj.org)
  • To study the metabolism of cholestanol in patients with cerebrotendinous xanthomatosis (CTX), we measured the cholestanol absorption, the cholesterol and cholestanol turnover, and the tissue content of sterols in two patients. (nih.gov)
  • The accumulation of cholesterol and cholestanol throughout the body's tissues causes the signs and symptoms of cerebrotendinous xanthomatosis. (medlineplus.gov)
  • Salen G. Cholestanol deposition in cerebrotendinous xanthomatosis. (medscape.com)
  • Salen G, Meriwether TW, Nicolau G. Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis. (medscape.com)
  • Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts. (cdc.gov)
  • Cerebrotendinous xanthomatosis (CTX) is a rare neurometabolic disease due to defective activity of sterol 27-hydroxylase, with plasma and tissue cholestanol storage. (unisi.it)
  • Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis. (bvsalud.org)
  • 27-hydroxylase deficiency (cerebrotendinous xanthomatosis) causes tendon xanthomas due to the accumulation of both cholesterol and cholestanol. (medscape.com)
  • Cholestanol is formed in a pathway from the bile acid precursor 7-alpha-hydroxy-4-cholesten-3-one. (medscape.com)
  • Biallelic pathogenic variants are responsible for loss of enzymatic sterol-27-hydroxylase activity leading to reduced production of chenodeoxycholic acid (CDCA) and cholic acid, and accumulation of cholestanol and bile alcohols [ 1 , 2 ]. (biomedcentral.com)
  • After CDCA treatment, serum cholestanol decreased to normal concentrations in all patients. (unisi.it)
  • and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid. (pomsresource.org)
  • Twenty-four CTX patients underwent clinical evaluation including general disability scores, pyramidal and cerebellar function scales, assessment of serum cholestanol and TMS. (unisi.it)
  • Of the 18 tissues analyzed at biopsy and autopsy, the cholestanol content varied from 0.09 mg/g in psoas muscle to 76 mg/g in a cerebellar xanthoma. (nih.gov)
  • Elevated cholestanol results (or changes in clinical status) may warrant further investigation and potential treatment modification. (medscape.com)
  • Liver enzymes and a lipid panel found no abnormalities except for an elevated cholestanol level of 25.8 ug/mL (normal value is 4.2 +/- 1.2 ug/mL). (faoj.org)
  • cholestanol was especially high in nerve tissue. (nih.gov)
  • 16. A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis. (nih.gov)
  • Our data indicate that CTX patients absorb cholestanol from the diet. (nih.gov)
  • They have a higher than normal cholestanol production rate. (nih.gov)
  • Other biomarkers may be useful to more rapidly monitor treatment efficacy compared to cholestanol. (medscape.com)
  • Conversion of 6 to pregnenolone 7 and then to allopregnanolone 8 allowed the addition of the tail group as the acetate in 9 and then conversion to cholestanol 10. (wikipedia.org)