[ 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)
[ 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)
Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and tissue deposition. (medscape.com)
Accumulation2
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)
After CDCA treatment, serum cholestanol decreased to normal concentrations in all patients. (unimib.it)
Bile acid2
Some serum bile acid levels themselves are low. (medscape.com)
Cholestanol is formed in a pathway from the bile acid precursor 7-alpha-hydroxy-4-cholesten-3-one. (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)
Sterol2
In the absence of the key enzyme, sterol 27-hydroxylase, other metabolites are increased such as cholestanol. (faoj.org)
Cerebrotendinous xanthomatosis (CTX) is a rare neurometabolic disease due to defective activity of sterol 27-hydroxylase, with plasma and tissue cholestanol storage. (unimib.it)
The synthesis and absorption markers were interrelated in serum and all lipoproteins suggesting intact regulation of cholesterol metabolism. (archive.org)
The findings indicate that even in patients with type II diabetes, including markedly increased body weight and altered cholesterol metabolism, measurement of serum non-cholesterol sterols and squalene reveals information of cholesterol synthesis and absorption without complicated clinical and laboratory methods. (archive.org)
The absorption and synthesis marker ratios to cholesterol were mostly similar in serum and lipoproteins, even though absorption sterols accumulated to HDL and IDL and synthesis markers in VLDL and IDL. (archive.org)
The ratios to cholesterol of absorption markers were negatively, those of synthesis markers positively related to BMI in serum and most lipoprotein fractions, and also to respective absolute synthesis and absorption percentage of cholesterol. (archive.org)
Diagnostic1
citation needed] Elevated levels of serum cholestanol are diagnostic of CTX. (wikipedia.org)
Findings reveal elevated plasma and serum cholestanol levels and low-to-normal cholesterol levels (usually 115-220 mg/dL). (medscape.com)
Concentration1
[ 23 ] The cholesterol-to-cholestanol ratio is a better indicator of disease than cholestanol concentration alone. (medscape.com)
Clinical2
Twenty-four CTX patients underwent clinical evaluation including general disability scores, pyramidal and cerebellar function scales, assessment of serum cholestanol and TMS. (unimib.it)
This enzyme is useful for enzymatic determination of cholesterol in serum in combination with cholesterol esterase (COE-301, COE-311, COE-313) in clinical analysis. (toyobo-global.com)
Patients1
Diagnosis can be suspected from elevated serum phytanic and pipecolic acid (in 20% of patients) or by demonstration of decreased phytanic acid oxidation in cultured fibroblasts. (arizona.edu)
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)
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)
Sterol 27-hydroxyl2
Cerebrotendinous xanthomatosis (CTX) is a rare neurometabolic disease due to defective activity of sterol 27-hydroxylase, with plasma and tissue cholestanol storage. (unisi.it)
In the absence of the key enzyme, sterol 27-hydroxylase, other metabolites are increased such as cholestanol. (faoj.org)
Assessment2
A total score ≥ 100 warranted serum cholestanol assessment. (nih.gov)
Twenty-four CTX patients underwent clinical evaluation including general disability scores, pyramidal and cerebellar function scales, assessment of serum cholestanol and TMS. (unisi.it)
Lipid2
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)
Eleven mildly to moderately hypercholesterolemic subjects consumed stanol ester margarine (2.0 g/day of stanols) as a part of their habitual diet for 14 days and the changes in serum lipid values were measured three times at 4, 8 and 15 days after the initiation of test margarine consumption (0 day). (biomedcentral.com)
Bile1
Cholestanol is formed in a pathway from the bile acid precursor 7-alpha-hydroxy-4-cholesten-3-one. (medscape.com)
Level2
Clinically familial hypercholesterolemia is diagnosed by a high serum level of low-density lipoprotein (LDL) cholesterol and genetically is characterized into two subgroups: (1) autosomal dominant (AD), (2) codominant transmission with 90% or higher penetrance. (nih.gov)
The need to administer one of these compounds to the patient is assessed by measuring the level of paracetamol in serum between 4 and 12 hours after ingestion. (southtees.nhs.uk)
Samples3
Dr. O. S. Smith of the Department of Chemical Pathology of Obafemi Awolowo University Teaching Hospital Complex (OAUTHC), Ile-Ife, Osun State, Nigeria is highly appreciated for providing the laboratory support in analysing the blood samples for total serum testosterone. (degruyter.com)
10. Metal-organic framework-based molecularly imprinted polymer as a high sensitive and selective hybrid for the determination of dopamine in injections and human serum samples. (nih.gov)
Therefore, the measurement of anogenital distance, which is non-invasive and cheap, could be used to estimate total serum testosterone in neonates. (degruyter.com)
Total serum testosterone was determined using enzyme linked immunoassay. (degruyter.com)
The linear regression equation was as follows: total serum testosterone (ng/dL) = 44.3 + 11.3*AGD (mm) with 95% CI, 8-14. (degruyter.com)
Serum campesterol/total cholesterol ratio, an indirect marker of intestinal cholesterol absorption, was significantly reduced on day 4 already. (biomedcentral.com)
The main inclusion criteria were as follows: serum total cholesterol 5.0-8.5 mmol/l and total triglycerides below 2.5 mmol/l at screening. (biomedcentral.com)
Brain1
Deposits of cholesterol and a related compound called cholestanol accumulate in the nerve cells and membranes potentially causing damage to the brain, spinal cord, tendons, lens of the eye and arteries. (rarediseases.org)