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)
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)
Findings reveal elevated plasma and serum cholestanol levels and low-to-normal cholesterol levels (usually 115-220 mg/dL). (medscape.com)
[ 23 ] The cholesterol-to-cholestanol ratio is a better indicator of disease than cholestanol concentration alone. (medscape.com)
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)
Cerebrotendinous8
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)
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)
Serum cholestanol2
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)
Deposition1
[ 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)
Concentrations1
HIgh levels of cholestanol are present in the bile of almost all individuals affected by CTX and concentrations of cholestanol decrease in response to treatment. (medscape.com)
Campesterol2
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)
Concentration1
No significant difference was determined between pediatric patients and adult patients regarding plasma cholestanol concentration at diagnosis (p = 0.482). (ogu.edu.tr)
Bile2
Cholestanol is formed in a pathway from the bile acid precursor 7-alpha-hydroxy-4-cholesten-3-one. (medscape.com)
The result is reduced bile acid synthesis and increased levels of cholestanol in plasma, tissues, and CSF. (arizona.edu)
Sterol 27-hydroxyl1
In the absence of the key enzyme, sterol 27-hydroxylase, other metabolites are increased such as cholestanol. (faoj.org)
Cholestanol-d5 is useful as an internal standard to spike sediment samples for tandem mass spectrometry (MS/MS) for fecal sterol quantification. (sigmaaldrich.com)
Diagnostic1
Results: Adequate sensitivity and reproducibility were achieved for quantification of 7α-hydroxy-4-cholesten-3-one, which demonstrated improved utility as a diagnostic marker of disease and to monitor treatment compared to 5α-cholestanol. (elsevierpure.com)
Form2
Cholestanol-d5 is a deuterated form of cholestanol. (sigmaaldrich.com)
Flesh of immature animals is a common source of dietary lanosterol, which may form with cholestanol and water an insoluble adjunct, CL-2W. (davidgessner.com)
Levels1
The cholestanol level is typically 3 to 15 times higher than mean levels in unaffected individuals and can range from 1.3 mg/dL to 15 mg/dL. (medscape.com)
Storage1
The storage of cholestanol within the nervous system. (medscape.com)
Small1
Pixatimod (P) is a heparan sulfate (HS) mimetic that is a cholestanol-sulfotetrasaccharide conjugated small molecule compound with unique NK- and T cell- dependent immunomodulatory properties. (bmj.com)
Normal1
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)
Cerebrotendinous xanthomatosis8
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, 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)
Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis. (bvsalud.org)
Cerebrotendinous xanthomatosis (CTX) is a rare neurometabolic disease due to defective activity of sterol 27-hydroxylase, with plasma and tissue cholestanol storage. (unisi.it)
27-hydroxylase deficiency (cerebrotendinous xanthomatosis) causes tendon xanthomas due to the accumulation of both cholesterol and cholestanol. (medscape.com)
Accumulation2
[ 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)
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)
Serum1
Twenty-four CTX patients underwent clinical evaluation including general disability scores, pyramidal and cerebellar function scales, assessment of serum cholestanol and TMS. (unisi.it)
Cerebellar1
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)
Liver1
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)
Tissue1
cholestanol was especially high in nerve tissue. (nih.gov)
Patients1
Our data indicate that CTX patients absorb cholestanol from the diet. (nih.gov)
Treatment1
Other biomarkers may be useful to more rapidly monitor treatment efficacy compared to cholestanol. (medscape.com)
Conversion1
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)