{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T17:27:54Z","timestamp":1782322074975,"version":"3.54.5"},"reference-count":17,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[1998,10,1]],"date-time":"1998-10-01T00:00:00Z","timestamp":907200000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1998,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The \u03b1\u2010oxidation of phytanic acid and the \u03b2\u2010oxidation of pristanitc acid were investigated in cultured fibroblasts from controls and patients affected with different peroxisomal disorders using deuterated substrates. Formation of [\u03c9\u20102H6]4,8\u2010dimethylnonanoylcarnitine ([\u03c9\u20102H6]C11\u2010carnitine) from [\u03c9\u20102 H6]phytanic acid and [\u03c9\u20102H6]pristanic acid was used as marker for these processes. Analysis was performed by tandem mass spectrometry.<\/jats:p><jats:p>In normal cells, formation of [\u03c9\u20102H6]C11\u2010carnitine from both [\u03c9\u20102H6]phytanic acid and [\u03c9\u20102H 6]pristanic acid was observed. When peroxisome\u2010deficient fibroblasts were incubated with these substrates, [\u03c9\u20102H6]C11\u2010carnitine was not detectable or, in two cases, very low, which results from deficiencies in both peroxisomal \u03b1\u2010 and \u03b2\u2010oxidation. In cells with an isolated \u03b2\u2010oxidation defect at the level of the peroxisomal bifunctional protein, formation of [\u03c9\u20102H6]C11\u2010carnitine could also not be detected.<\/jats:p><jats:p>Cells with an isolated defect in the \u03b1\u2010oxidation of phytanic acid, obtained from patients affected with Refsum disease (McKusick 266500) or rhizomelic chondrodysplasia punctata (McKusick 215100), did not form [\u03c9\u20102H6]C11 \u2010carnitine from [\u03c9\u20102H6]phytanic acid. The observed formation of [\u03c9\u20102H6]C11\u2010carnitine from [\u03c9\u20102H6]pristanic acid in these cells is in accordance with a normal peroxisomal \u03b2 \u2010oxidation in these disorders.<\/jats:p><jats:p>This study shows that separate incubation of fibroblasts with [\u03c9\u20102H 6]phytanic acid and [\u03c9\u20102H6]pristanic acid, followed by acylcarnitine analysis in the medium by tandem mass spectrometry, can be used for screening cell lines for deficiencies in the peroxisomal \u03b1\u2010 and \u03b2\u2010oxidation pathways.<\/jats:p>","DOI":"10.1023\/a:1005449200468","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T22:25:23Z","timestamp":1040509523000},"page":"753-760","source":"Crossref","is-referenced-by-count":14,"title":["Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis"],"prefix":"10.1002","volume":"21","author":[{"given":"N. M.","family":"Verhoeven","sequence":"first","affiliation":[{"name":"Department of Clinical Chemistry Free University Hospital  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Jakobs","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry Free University Hospital  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. J.","family":"Ten Brink","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry Free University Hospital  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. J. A.","family":"Wanders","sequence":"additional","affiliation":[{"name":"Departments of Clinical Chemistry and Pediatrics Academic Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. R.","family":"Roe","sequence":"additional","affiliation":[{"name":"Institute for Metabolic Disease Baylor University Medical Center  Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1998,10]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(76)90527-3"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114674"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.3109\/00365519609088610"},{"key":"e_1_2_1_5_1","first-page":"2287","volume-title":"T he Metabolic and Molecular Bases of Inherited Disease","author":"Lazarow PB","year":"1995"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.73.6.2043"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/bmmb.1993.1025"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.2.530"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118465"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)43207-9"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)41382-3"},{"key":"e_1_2_1_12_1","first-page":"717","volume-title":"Synthesis and Applications of Isotopically L abeled Compounds","author":"Brink HJ","year":"1989"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)41881-4"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199211000-00016"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710285"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)34204-8"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199509000-00016"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(87)90193-8"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005449200468","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005449200468","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T23:13:09Z","timestamp":1694819589000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005449200468"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,10]]},"references-count":17,"journal-issue":{"issue":"7","published-print":{"date-parts":[[1998,10]]}},"alternative-id":["10.1023\/A:1005449200468"],"URL":"https:\/\/doi.org\/10.1023\/a:1005449200468","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,10]]}}}