Quantification of 7-dehydrocholesterol in plasma and amniotic fluid by liquid chromatography/particle beam-mass spectrometry as a biochemical diagnostic marker for the smith-lemli-opitz syndrome
- 1 January 1995
- journal article
- research article
- Published by Wiley in Rapid Communications in Mass Spectrometry
- Vol. 9 (13) , 1288-1292
- https://doi.org/10.1002/rcm.1290091313
Abstract
The qualitative and quantitative determination of cholesterol and 7-dehydrocholesterol (7-DHC) in plasma as a biochemical diagnostic marker for the Smith-Lemli-Opitz syndrome by liquid chromatography/particle beam interface-mass Spectrometry (LC/PB-MS) is presented. Baseline separation of cholesterol arid 7-DHC is achieved on a silica column with hexane + ethanol (99:1 v/v) as mobile phase within a 10 min analysis. Recoveries of cholesterol and 7-DHC in a simple two-phase extraction system are nearly 100%. The absolute limit of detection using LC/PB-MS is ≈10 ng. The method presented allows extraction, analysis and quantification of cholesterol and 7-DHC within 15 min without the necessity of sample derivatization.Keywords
This publication has 16 references indexed in Scilit:
- Smith‐Lemli‐Opitz syndrome: Prenatal diagnosis by quantification of cholesterol precursors in amniotic fluidAmerican Journal of Medical Genetics, 1995
- Prenatal diagnosis of Smith‐Lemli‐Optiz syndromeAmerican Journal of Medical Genetics, 1995
- Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblastsClinica Chimica Acta; International Journal of Clinical Chemistry, 1995
- Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats.Journal of Clinical Investigation, 1995
- Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz SyndromeNew England Journal of Medicine, 1994
- Smith‐Lemli‐Opitz syndrome‐type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethalityAmerican Journal of Medical Genetics, 1987
- Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parentsSteroids, 1985
- Gas-Liquid Chromatographic and Mass Spectrometric Studies on Sterols in Vernix Caseosa, Amniotic Fluid, and Meconium.Acta Chemica Scandinavica, 1968
- A newly recognized syndromeof multiple congenital anomaliesThe Journal of Pediatrics, 1964
- A RAPID METHOD OF TOTAL LIPID EXTRACTION AND PURIFICATIONCanadian Journal of Biochemistry and Physiology, 1959