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Original Article

Normalization of the Tricaprin Test for ω-Oxidation in Refsum's Disease upon Lowering of Serum Phytanic Acid

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Pages 294-296 | Received 25 Aug 1967, Published online: 08 Jul 2009

References

  • Avigan J., Steinberg D., Gutman A., Mize C. E., Milne G. W. A. Alpha-decarboxylation, an important pathway for the degradation of phytanic acid in animals. Biochem. biophys. Res. Commun. 1966; 24: 838
  • Eldjarn L. Heredopathia atactica polyneuriti-formis (Refsum's disease)—a defect in the omega-oxidation mechanism of fatty acids. Scand. J. clin. Lab. Invest. 1965; 17: 178
  • Eldjarn L., Stokke O., Try K. Alpha-oxidation of branched chain fatty acids in man and its failure in patients with Refsum's disease showing phytanic acid accumulation. Scand. J. clin. Lab. Invest. 1966; 18: 694
  • Eldjarn L., Try K., Stokke O. The ability of patients with heredopathia atactica polyneuritiformis to omega-oxidize and degrade several isoprenoid branch-chained structures. Scand. J. clin. Lab. Invest. 1966; 18: 141
  • Eldjarn L., Try K., Stokke O. The existence of an alternative pathway for the degradation of branch-chained fatty acids, and its failure in heredopathia atactica polyneuritiformis (Refsum's disease). Biochim. biophys. Acta (Amst.) 1966; 116: 395
  • Eldjarn L., Try K., Stokke O., Munthe-Kaas A. W., Refsum S., Steinberg D., Avigan J., Mize C. Dietary effects on serum-phytanic acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis. Lancet 1966; I: 691
  • Klenk E., Kahlke W. ÜUber das Vorkommen der 3,7,11,15-Tetra-methylhexadecansäure (Phytansäure) in der Cholesterinestern und anderen Lipoidfraktionen der Organe bei einem Krank-heitsfall unbekannter Genese (Verdacht auf Heropathia atactica polyneuritiformis (Refsum-Syndrom)). Hoppe-Seylers Z. physiol. Chem. 1963; 333: 133
  • Refsum S. Heredopathia Atactica Polyneuritiformis. A Familial Syndrome not hitherto Described. Johan Grundt Tanum Forlag, Oslo 1946
  • Shorland F. B., Hansen R. P., Prior I. A. M. The effect of phytanic acid on the fatty acid composition of the lipids of the rat with further observations on its metabolism. p. 399. Proceedings of the VIIth International Congress of Nutrition, Hamburg, Physiology and Biochemistry of Food Components. Fridr. Vieweg & Sohn, Braunschweig, Germany 1966; Vol. 5
  • Steinberg D., Avigan J., Mize C., Eldjarn L., Try K., Refsum S. Conversion of U-C14-phytol to phytanic acid and its oxidation in heredopathia atactica polyneuritiformis. Biochem. biophys. Res. Commun. 1965; 19: 783
  • Steinberg D., Herndon J. H., Jr, Uhlendorf B. W., Avigan J., Mize C. E., Fales H. M. The enzymatic defect in Refsum's disease. J. clin. Invest. 1967; 46: 1120
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  • Stokke O. Refsum's disease—the disappearance of phytanic acid upon dietary treatment. Abstracts. 4th FEBS meeting Oslo 1967. Universitetsforlaget, Oslo, Norway 1967
  • Stokke O., Try K., Eldjarn L. Alpha-oxidation as an alternative pathway for the degradation of branched-chain fatty acids in man, and its failure in patients with Refsum's disease. Biochim. biophys. Acta (Amst.) 1967; 144: 271
  • Try K., Unpublished results.
  • Try K. Studies on the metabolic failure in heredopathia atactica polyneuritiformis (Refsum's disease), indicating a partial metabolic defect in the alpha-oxidation mechanism. Scand. J. clin. Lab. Invest., In press.
  • Verkade P. E., van der Lee J., Elzas M. Researches on fat metabolism. XII. The influence of carbohydrate on diaciduria. Biochim. biophys. Acta (Amst.) 1948; 2: 38

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