{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T19:08:03Z","timestamp":1776539283626,"version":"3.51.2"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,2,7]],"date-time":"2020-02-07T00:00:00Z","timestamp":1581033600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["GM062882"],"award-info":[{"award-number":["GM062882"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder, characterised by chronic diarrhoea, xanthomas, cataracts, and neurological deterioration. CTX is caused by CYP27A1 deficiency, which leads to abnormal cholesterol and bile acid metabolism. Urinary bile acid profiling (increased <jats:italic>m<\/jats:italic>\/<jats:italic>z<\/jats:italic> 627: glucuronide\u20105\u03b2\u2010cholestane\u2010pentol) serves as diagnostic screening for CTX. However, this led to a false positive CTX diagnosis in two patients, who had received total intravenous anaesthesia (TIVA) with propofol.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>To determine the influence of propofol on bile acid profiling, 10 urinary samples and 2 blood samples were collected after TIVA with propofol Fresenius 7 to 10\u2009mg\/kg\/h from 12 subjects undergoing scoliosis correction. Urinary bile acids were analysed using flow injection negative electrospray mass spectrometry. Propofol binding to recombinant CYP27A1, the effects of propofol on recombinant CYP27A1 activity, and <jats:italic>CYP27A1<\/jats:italic> expression in liver organoids were investigated using spectral binding, enzyme activity assays, and qPCR, respectively. Accurate masses were determined with high\u2010resolution mass spectrometry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Abnormal urinary profiles were identified in all subjects after TIVA, with a trend correlating propofol dose per kilogramme and <jats:italic>m<\/jats:italic>\/<jats:italic>z<\/jats:italic> 627 peak intensity. Propofol only induced a weak CYP27A1 response in the spectral binding assay, minimally affected CYP27A1 activity and did not affect <jats:italic>CYP27A1<\/jats:italic> expression. The accurate mass of <jats:italic>m<\/jats:italic>\/<jats:italic>z<\/jats:italic> 627 induced by propofol differed &gt;10 PPM from <jats:italic>m<\/jats:italic>\/<jats:italic>z<\/jats:italic> 627 observed in CTX.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>TIVA with propofol invariably led to a urinary profile misleadingly suggestive of CTX, but not through CYP27A1 inhibition. To avoid further misdiagnoses, propofol administration should be considered when interpreting urinary bile acid profiles.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jimd.12219","type":"journal-article","created":{"date-parts":[[2020,1,28]],"date-time":"2020-01-28T21:21:00Z","timestamp":1580246460000},"page":"843-851","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6089-1090","authenticated-orcid":false,"given":"Joep L. A.","family":"Claesen","sequence":"first","affiliation":[{"name":"Department of Metabolic Diseases, University Medical Center Utrecht  Utrecht Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik","family":"Koomen","sequence":"additional","affiliation":[{"name":"Department of Paediatric Intensive Care University Medical Center Utrecht  Utrecht Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imre F.","family":"Schene","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, University Medical Center Utrecht  Utrecht Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith J. M.","family":"Jans","sequence":"additional","affiliation":[{"name":"Department of Genetics Section Metabolic Diagnostics, Center for Molecular Medicine, University Medical Center Utrecht  Utrecht Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Mast","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences Case Western Reserve University  Cleveland Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina A.","family":"Pikuleva","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences Case Western Reserve University  Cleveland Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"van der Ham","sequence":"additional","affiliation":[{"name":"Department of Genetics Section Metabolic Diagnostics, Center for Molecular Medicine, University Medical Center Utrecht  Utrecht Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monique G. M.","family":"de Sain\u2010van der Velden","sequence":"additional","affiliation":[{"name":"Department of Genetics Section Metabolic Diagnostics, Center for Molecular Medicine, University Medical Center Utrecht  Utrecht Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine A.","family":"Fuchs","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, University Medical Center Utrecht  Utrecht Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,2,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0179-4"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-017-0389-4"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/joim.12709"},{"key":"e_1_2_10_5_1","unstructured":"Orphanet. Cerebrotendinous xanthomatosis.https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Lng=EN&Expert=909. Accessed July 1 2018."},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.metabol.2007.04.023"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2018.00939"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0963-1"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0815-z"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2007.01.016"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v18.i10.1067"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a135502"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-018-0162-7"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacl.2018.06.008"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.57.4.520"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.10.010"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v9.i9.1959"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-2952(02)01226-1"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0024-3205(01)01091-8"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1124\/mol.117.110742"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1124\/mol.115.099598"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005543802724"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi052654w"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(92)80847-A"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1248\/bpb.16.627"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.11.050"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00216-008-2244-0"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjimd.12219","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12219","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.12219","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12219","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T02:12:37Z","timestamp":1692670357000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12219"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,7]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1002\/jimd.12219"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12219","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,7]]},"assertion":[{"value":"2019-06-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}