PMID: 3883479Feb 1, 1985Paper

Determination of cholesteryl sulphate by isotope dilution-mass spectrometry for diagnosis of steroid sulphatase deficiency

Scandinavian Journal of Clinical and Laboratory Investigation
I BjörkhemP Harper

Abstract

A specific and accurate method for determination of cholesteryl sulphate in serum based on isotope dilution-mass spectrometry has been developed. 2H-labelled cholesteryl sulphate was synthesized and used as internal standard. After addition of the internal standard to serum, the cholesteryl sulphate is extracted with butanol and purified by thin-layer chromatography. The material is then solvolysed, converted into trimethylsilyl ether, and analysed by combined gas chromatography-mass spectrometry. The ratio between unlabelled and labelled cholesterol is determined by selected ion monitoring of the ions at m/e 458 (corresponding to the molecular ion of derivative of unlabelled cholesterol) and m/e 465 (corresponding to the molecular ion of derivative of 2H7-labelled cholesterol). The concentration of cholesteryl sulphate is calculated with use of a standard curve. The coefficient of variation of the method was found to vary between 4% and 9% in different concentration ranges. Nine healthy male infants (age range, 1-3 yr) had concentrations of cholesteryl sulphate varying between 0.2 and 11 mumol/l (mean, 3.8 mumol/l). A boy with suspected steroid sulphatase deficiency had a concentration of cholesteryl sulphate of 69 and 64 mumo...Continue Reading

References

Oct 7, 1978·Lancet·L J ShapiroR S Wells
Aug 1, 1979·CRC Critical Reviews in Clinical Laboratory Sciences·I Björkhem
Jul 1, 1979·Journal of Steroid Biochemistry·J T France
Jan 1, 1969·The Journal of Clinical Endocrinology and Metabolism·J T France, G C Liggins
Mar 1, 1972·Canadian Journal of Biochemistry·G BleauK D Roberts
Jul 31, 1974·Clinica Chimica Acta; International Journal of Clinical Chemistry·I BjörkhemL Svensson
Jul 1, 1981·The Journal of Clinical Endocrinology and Metabolism·E A Bergner, L J Shapiro
May 1, 1966·Lipids·R O Mumma

Citations

Nov 1, 1988·Biomedical Chromatography : BMC·J M Street, K D Setchell
Dec 3, 1999·The British Journal of Dermatology·A Hernández-MartínP De Unamuno
Dec 17, 2014·Journal of Lipid Research·Alberto Sánchez-GuijoStefan A Wudy
Feb 1, 1992·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·K D SetchellA Morelli
Sep 15, 1995·Journal of Chromatography. B, Biomedical Applications·E B Hoving

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Spatio-Temporal Regulation of DNA Repair

DNA repair is a complex process regulated by several different classes of enzymes, including ligases, endonucleases, and polymerases. This feed focuses on the spatial and temporal regulation that accompanies DNA damage signaling and repair enzymes and processes.

Glut1 Deficiency

Glut1 deficiency, an autosomal dominant, genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier, is characterized by mental and motor developmental delays and infantile seizures. Follow the latest research on Glut1 deficiency with this feed.

Hereditary Sensory Autonomic Neuropathy

Hereditary Sensory Autonomic Neuropathies are a group of inherited neurodegenerative disorders characterized clinically by loss of sensation and autonomic dysfunction. Here is the latest research on these neuropathies.

Separation Anxiety

Separation anxiety is a type of anxiety disorder that involves excessive distress and anxiety with separation. This may include separation from places or people to which they have a strong emotional connection with. It often affects children more than adults. Here is the latest research on separation anxiety.

Neural Activity: Imaging

Imaging of neural activity in vivo has developed rapidly recently with the advancement of fluorescence microscopy, including new applications using miniaturized microscopes (miniscopes). This feed follows the progress in this growing field.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

© 2021 Meta ULC. All rights reserved