9
Views
23
CrossRef citations to date
0
Altmetric
Original Article

Phytanic acid oxidase activity in cultured skin fibroblasts. Diagnostic usefulness and limitations

, , &
Pages 283-287 | Received 06 Sep 1985, Accepted 04 Dec 1985, Published online: 08 Jul 2009

References

  • Stokke O, Eldjarn L. Biochemical and dietary aspects of Refsum's disease. Peripheral Neuropathy. 2nd ed., P J Dyck, P K Thomas, E H Lambert, R Bunge. Saunders, Philadelphia 1984; 1684–93
  • Steinberg D. Phytanic acid storage disease: Refsums's disease syndrome. The Metabolic Basis of Inherited Disease 3rd ed., J B Stanbury, J B Wyngarden, D S Fredrickson. McGraw Hill, New York 1972; 833–53
  • Stokke O, Skrede S, Ek J, Bjorkhem I. Refsum's disease, adrenoleukodystrophy, and the Zellweger syndrome. Scand J Clin Lab Invest 1984; 44: 463–4
  • Poulos A, Pollard A C, Mitchell J D, Wise G, Mortimer G. Patterns of Refsum's disease. Phytanic acid oxidase deficiency. Arch Dis Child 1984; 59: 222–9
  • Herndon J H, Jr, Steinberg D, Uhlendorf B W, Fales H M. Refsum's disease: characterization of the enzyme defect in cell culture. J Clin Invest 1969; 48: 1017–32
  • Poulos A. Diagnosis of Refsum's disease using [l-14C]phytanic acid as substrate. Clin Genet 1981; 20: 247–53
  • Jellum E, Eldjarn L, Try K. Conversion of phytol into dthydrophytol and phytanic acid. Acta Chem Scand 1966; 20: 2535–8
  • Poulos A, Barone E, Johnson D W. Partial synthesis of [l-l4C]phytanic acid. Lipids 1980; 15: 19–21
  • Lowry O H, Rosebroμgh N J, Farr A L, Randall R J. Protein measurement with the folin phenol reagent. J Biol Chem 1951; 193: 265–75
  • Shorland F B, Hansen R R, Prior I AM. The effect of phytanic acid on the fatty acid composition of the lipids of the rat with further observations on its metabolism. Proc 7th Int Congr Nutr, Hamburg. Vieweg & Sohn, Braunschweig 1966; vol. 5: 399–407
  • Steinberg D. Refsum's disease: Nature of the enzyme defect. Science 1967; 156: 1740–2
  • Stokke O, Try K, Eldjarn L. α-Oxidation as an alternative pathway for the degradation of branched-chain fatty acids in man, and its failure in patients with Refsum's disease. Biochem Biophys Acta 1967; 144: 271–84
  • Hansen R P, Shorland F B, Prior I AM. The occurrence of 4, 8, 12-trimethyltridecanoic acid in tissues of rats fed high levels of phytanic acid. Biochem Biophys Acta 1968; 152: 642–4
  • Tsai S, Herndon J H, Jr, Uhlendorff B W, Fales H M, Mize C E. The formation of alpha-hydroxy phytanic acid from phytanic acid in mammalian tissues. Biochem Biophys Res Commun 1967; 28: 571–7
  • Tsai S, Avigan I, Steinberg D. The pathway for mitochondrial oxidation of phytanic acid (3,7, 11, 15-tetramethylhexadecanoic acid). Fed Proc 1968; 27: 648
  • Stokke O. a-Oxidation of a p-methyl-substituted fatty acid in guinea-pig liver mitochondria. Biochem Biophys Acta 1968; 152: 213–6

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.