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Science 30 June 1967:
Vol. 156. no. 3783, pp. 1740 - 1742
DOI: 10.1126/science.156.3783.1740
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Articles

Refsum's Disease: Nature of the Enzyme Defect

Daniel Steinberg 1, James H. Herndon Jr. 1, B. William Uhlendorf 1, Charles E. Mize 1, Joel Avigan 1, and G. W. A. Milne 1

1 Laboratory of Metabolism, National Heart Institute; Laboratory of Viral Immunology, Division of Biologics Standards, National Institutes of Health, Bethesda, Maryland

Two siblings with Refsum's disease, an inherited disorder of lipid metabolism, oxidized intravenously injected uniformly labeled phytanic acid-C14 at rates less than 5 percent of those found in normal subjects. The defect in oxidation of phytanic acid persisted in cultures of fibroblasts from the patients' skin. The rate of oxidation of the phytanic acid-C14 was less than 1 percent of that found in cultures of fibroblasts from normal skin. However, pristanic acid, previously shown to be the first product of phytanic acid degradation, was oxidized at a normal rate in the patients' cultures. These results indicate that the enzymatic defect in Refsum's disease is in the first step of the pathway for degradation of phytanic acid, that is, in the unusual alpha-oxidative process that leads to a shortening of phytanic acid by one carbon atom.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease.
A. S. Wierzbicki, P. D. Mayne, M. D. Lloyd, D. Burston, G. Mei, M. C. Sidey, M. D. Feher, and F. B. Gibberd (2003)
J. Lipid Res. 44, 1481-1488
   Abstract »    Full Text »    PDF »
Phytanic Acid in Patients With Refsum's Syndrome and Response to Dietary Treatment.
D. Steinberg, C. E. Mize, J. H. Herndon Jr., H. M. Fales, W. K. Engel, and F. Q. Vroom (1970)
Arch Intern Med 125, 75-87
   Abstract »    PDF »
Scavenger Receptor Class B Type I Is Expressed in Cultured Keratinocytes and Epidermis. REGULATION IN RESPONSE TO CHANGES IN CHOLESTEROL HOMEOSTASIS AND BARRIER REQUIREMENTS.
H. Tsuruoka, W. Khovidhunkit, B. E. Brown, J. W. Fluhr, P. M. Elias, and K. R. Feingold (2002)
J. Biol. Chem. 277, 2916-2922
   Abstract »    Full Text »    PDF »


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