title: Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry.
abstract: A common feature of most peroxisomal disorders is the accumulation of very-long-chain fatty acids (VLCFAs) and/or pristanic and phytanic acid in plasma. Previously described methods utilizing either gas chromatography alone or gas chromatography-mass spectrometry are, in general, time-consuming and unable to analyze VLCFAs, pristanic and phytanic acid within a single analysis. We describe a simple, reproducible and rapid method using gas chromatography/mass spectrometry with deuterated internal standards. The method was evaluated by analysing 30 control samples and samples from 35 patients with defined peroxisomal disorders and showed good discrimination between controls and patients. This method is suitable for routine screening for peroxisomal disorders.
authors.affiliation: Academic Medical Center, University of Amsterdam, Emma Children's Hospital and Dept. of Clinical Chemistry, The Netherlands. p.vreken@amc.uva.nl
authors.forename: P
authors.initials: P
authors.lastname: Vreken
authors.forename: A E
authors.initials: AE
authors.lastname: van Lint
authors.forename: A H
authors.initials: AH
authors.lastname: Bootsma
authors.forename: H
authors.initials: H
authors.lastname: Overmars
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
mesh_terms: D003903:Deuterium; D005227:Fatty Acids / Q000097:blood*; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007201:Indicator Dilution Techniques; D008297:Male; D018901:Peroxisomal Disorders / Q000097:blood; D010831:Phytanic Acid / Q000097:blood*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
chemical_list: D005227:Fatty Acids; D010831:Phytanic Acid; C002844:pristanic acid; D003903:Deuterium