{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T04:15:31Z","timestamp":1791173731910,"version":"4.1.0"},"reference-count":0,"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 branched\u2010chain fatty acid phytanic acid is a constituent of the diet, present in diary products, meat and fish. Degradation of this fatty acid in the human body is preceded by activation to phytanoyl\u2010CoA and starts withone cycle of \u03b1\u2010oxidation. Intermediates in this pathway are 2\u2010hydroxy\u2010phytanoyl\u2010CoA and pristanal; the product is pristanic acid. After activation, pristanic acid is degraded by peroxisomal \u03b2\u2010oxidation. Several disorders havebeen described in which phytanic acid accumulates, in some cases in combination with pristanic acid. In classical Refsum disease, the enzyme that converts phytanoyl\u2010CoA into 2\u2010hydroxyphytanoyl\u2010CoA \u2013 phytanoyl\u2010CoA hydroxylase \u2013 is deficient, resulting in highly elevated levels of phytanic acid in blood and tissues. Also in rhizomelic chondrodysplasia punctata, phytanic acid accumulates, owing to a deficiency in the peroxisomal import of proteins with a peroxisomal targeting sequence type 2. In patients affected with generalized peroxisomal disorders, degradation of both phytanic acid and pristanic acid is impaired owing to absence of functional peroxisomes. In bifunctional protein deficiency, the disturbed oxidation of pristanic acid results in elevated levels of this fatty acid and a secondary elevation of phytanic acid. In addition, several variant peroxisomal disorders with unknown aetiology have been described in which phytanic acid and\/or pristanic acid accumulate. This review describes the discovery of phytanic acid and pristanic acid and the initial attempts to elucidate the origins and fates of these fatty acids. The current knowledge on the \u03b1\u2010oxidation and \u03b2\u2010oxidation of these branched\u2010chain fatty acids is summarized. The disorders in which phytanic acid and\/or pristanic acid accumulate are described and some remarks are made on the pathogenic mechanisms of elevated levels of phytanic acid and pristanic acid.<\/jats:p>","DOI":"10.1023\/a:1005476631419","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T22:25:23Z","timestamp":1040509523000},"page":"697-728","source":"Crossref","is-referenced-by-count":94,"title":["The metabolism of phytanic acid and pristanic acid in man: A review"],"prefix":"10.1002","volume":"21","author":[{"given":"N. M.","family":"Verhoeven","sequence":"first","affiliation":[{"name":"Department of Clinical Chemistry, Metabolic Unit 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":"B. T.","family":"Poll\u2010The","sequence":"additional","affiliation":[{"name":"Department of Metabolic Disease University Hospital \u2018The Wilhelmina Kinderziekenhuis\u2019  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010M.","family":"Saudubray","sequence":"additional","affiliation":[{"name":"Hopital N\u00eacker des Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Jakobs","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Metabolic Unit Free University Hospital  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1998,10]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005476631419","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005476631419","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T23:12:58Z","timestamp":1694819578000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005476631419"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,10]]},"references-count":0,"journal-issue":{"issue":"7","published-print":{"date-parts":[[1998,10]]}},"alternative-id":["10.1023\/A:1005476631419"],"URL":"https:\/\/doi.org\/10.1023\/a:1005476631419","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]]}}}