Open this publication in new window or tab >>Avanti Polar Lipids Inc., AL, Alabaster, United States.
Avanti Polar Lipids Inc., AL, Alabaster, United States.
Umeå University, Faculty of Medicine, Department of Integrative Medical Biology (IMB).
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Neurosciences.
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Neurosciences.
Departments of Internal Medicine, Section of Digestive Diseases, and of Pathology, Yale University School of Medicine, CT, New Haven, United States.
Inborn Errors of Metabolism, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, United Kingdom.
Inborn Errors of Metabolism, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, United Kingdom.
Department of Pediatrics, Division of Gastroenterology, Gazi University Faculty of Medicine, Ankara, Turkey.
Department of Pediatrics, Division of Gastroenterology, Gazi University Faculty of Medicine, Ankara, Turkey.
Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Swansea University Medical School, ILS1 Building, Singleton Park, Wales, Swansea, United Kingdom.
Swansea University Medical School, ILS1 Building, Singleton Park, Wales, Swansea, United Kingdom.
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2021 (English)In: Analytica Chimica Acta, ISSN 0003-2670, E-ISSN 1873-4324, Vol. 1154, article id 338259Article in journal (Refereed) Published
Abstract [en]
Both plasma and cerebrospinal fluid (CSF) are rich in cholesterol and its metabolites. Here we describe in detail a methodology for the identification and quantification of multiple sterols including oxysterols and sterol-acids found in these fluids. The method is translatable to any laboratory with access to liquid chromatography – tandem mass spectrometry. The method exploits isotope-dilution mass spectrometry for absolute quantification of target metabolites. The method is applicable for semi-quantification of other sterols for which isotope labelled surrogates are not available and approximate quantification of partially identified sterols. Values are reported for non-esterified sterols in the absence of saponification and total sterols following saponification. In this way absolute quantification data is reported for 17 sterols in the NIST SRM 1950 plasma along with semi-quantitative data for 8 additional sterols and approximate quantification for one further sterol. In a pooled (CSF) sample used for internal quality control, absolute quantification was performed on 10 sterols, semi-quantification on 9 sterols and approximate quantification on a further three partially identified sterols. The value of the method is illustrated by confirming the sterol phenotype of a patient suffering from ACOX2 deficiency, a rare disorder of bile acid biosynthesis, and in a plasma sample from a patient suffering from cerebrotendinous xanthomatosis, where cholesterol 27-hydroxylase is deficient.
Place, publisher, year, edition, pages
Elsevier, 2021
Keywords
Bile acid, Cholestenoic acid, Cholesterol, Derivatisation, Hydroxycholesterol, Isotope-labelled standard, LC-MS
National Category
Analytical Chemistry
Identifiers
urn:nbn:se:umu:diva-182002 (URN)10.1016/j.aca.2021.338259 (DOI)000651330800001 ()2-s2.0-85103095646 (Scopus ID)
2021-04-062021-04-062023-09-05Bibliographically approved