Clinical Chemistry
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 41: 548-552, 1995;
This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Seedorf, U.
Right arrow Articles by Assmann, G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Seedorf, U.
Right arrow Articles by Assmann, G.

Clinical Chemistry, Vol 41, 548-552, Copyright © 1995 by American Association for Clinical Chemistry

Smith-Lemli-Opitz syndrome diagnosed by using time-of-flight secondary- ion mass spectrometry

U Seedorf, M Fobker, R Voss, K Meyer, F Kannenberg, D Meschede, K Ullrich, J Horst, A Benninghoven and G Assmann
Instituten fur Arterioskleroseforschung, Westfalische Wilhelms- Universitat Munster, Germany.

We describe a rapid and sensitive method involving time-of-flight secondary-ion mass spectrometry (TOF-SIMS) for specific laboratory diagnosis of the Smith-Lemli-Opitz syndrome, which is characterized by massive (approximately 1000-fold) accumulation of the biosynthetic cholesterol precursor 7-dehydrocholesterol. Minute amounts of blood (1- 50 microL) were extracted with n-hexane, and aliquots were analyzed by TOF-SIMS. 7-Dehydrocholesterol and its isomers were detected at 491.3 mass units ([M + 107Ag]+) and cholesterol at 495.3 mass units ([M + 109Ag]+). Quantitation of 7-dehydrocholesterol and cholesterol was achieved after saponification and addition of stigmasterol as internal standard. Whereas 7-dehydrocholesterol and isomeric dehydrocholesterol were not detectable in controls, the patients revealed concentrations ranging between 0.84 and 1.25 mmol/L. Comparison with results obtained by gas chromatography indicated that quantitation by TOF-SIMS yielded the sum of 7-dehydrocholesterol, isomeric dehydrocholesterol II, and sterol III, the latter two also being increased in the patients. Consistent with quantitation by gas chromatography, the cholesterol concentrations in the patients ranged between 1.54 and 2.12 mmol/L (controls: 6.10 +/- 1.37 mmol/L).


The following articles in journals at HighWire Press have cited this article:


Home page
 Clin. Chem.Home page
W. J. Griffiths, Y. Wang, K. Karu, E. Samuel, S. McDonnell, M. Hornshaw, and C. Shackleton
Potential of Sterol Analysis by Liquid Chromatography-Tandem Mass Spectrometry for the Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome
Clin. Chem., August 1, 2008; 54(8): 1317 - 1324.
[Abstract] [Full Text] [PDF]

Home page
 J. Lipid Res.Home page
C. Wolfrum, P. Ellinghaus, M. Fobker, U. Seedorf, G. Assmann, T. Börchers, and F. Spener
Phytanic acid is ligand and transcriptional activator of murine liver fatty acid binding protein
J. Lipid Res., April 1, 1999; 40(4): 708 - 714.
[Abstract] [Full Text]

Home page
 Genes Dev.Home page
U. Seedorf, M. Raabe, P. Ellinghaus, F. Kannenberg, M. Fobker, T. Engel, S. Denis, F. Wouters, K. W.A. Wirtz, R. J.A. Wanders, et al.
Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function
Genes & Dev., April 15, 1998; 12(8): 1189 - 1201.
[Abstract] [Full Text]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1995 by the American Association for Clinical Chemistry.