title: Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry.
abstract: The concentration of globotriaosylceramide (ceramide trihexoside (CTH)) in the plasma of patients with Fabry disease has been determined quantitatively by tandem mass spectrometry (MS) using novel internal standards, [D4]C-16 CTH and C-17 CTH, which were synthesised enzymically from lyso-CTH using the reverse reaction of sphingolipid ceramide N-deacylase. C-17 CTH was also synthesised chemically from lyso-CTH. This strategy has also been used to prepare standards for the quantitative determination by MS of other glycosphingolipids.
authors.affiliation: Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health (University College London), 30 Guilford Street, WC1N 1EH, London, UK.
authors.forename: Kevin
authors.initials: K
authors.lastname: Mills
authors.forename: Andrew
authors.initials: A
authors.lastname: Johnson
authors.forename: Bryan
authors.initials: B
authors.lastname: Winchester
mesh_terms: D000581:Amidohydrolases / Q000737:chemistry; D002138:Calibration / Q000592:standards; D004912:Erythrocytes / Q000737:chemistry; D000795:Fabry Disease / Q000097:blood*; D006028:Glycosphingolipids / Q000097:blood* / Q000737:chemistry / Q000592:standards*; D006801:Humans; D008297:Male; D012016:Reference Values; D015203:Reproducibility of Results; D021241:Spectrometry, Mass, Electrospray Ionization / Q000592:standards
chemical_list: D006028:Glycosphingolipids; C088880:ceramide trihexoside; D000581:Amidohydrolases; C096410:sphingolipid ceramide N-deacylase