Clinical Chemistry
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Clinical Chemistry 29: 434-437, 1983;
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Clinical Chemistry, Vol 29, 434-437, Copyright © 1983 by American Association for Clinical Chemistry

2,6-Dimethyloctanedioic acid--a metabolite of phytanic acid in Refsum's disease

J Greter, S Lindstedt and G Steen

The urine of two patients with Refsum's disease consistently contained 2,6-dimethyloctanedioic acid, a compound not normally found in human urine. In addition, their urines contained increased concentrations of 3-methylhexanedioic acid. These two compounds may be formed from phytanic acid by an initial omega-oxidation and subsequent beta- oxidations. It was calculated that this oxidation pathway may metabolize at least 30 mg of phytanic acid per day.


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 J. Lipid Res.Home page
J. C. Komen, M. Duran, and R. J. A. Wanders
{omega}-Hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease
J. Lipid Res., July 1, 2004; 45(7): 1341 - 1346.
[Abstract] [Full Text] [PDF]

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 J. Lipid Res.Home page
A. S. Wierzbicki, P. D. Mayne, M. D. Lloyd, D. Burston, G. Mei, M. C. Sidey, M. D. Feher, and F. B. Gibberd
Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease
J. Lipid Res., August 1, 2003; 44(8): 1481 - 1488.
[Abstract] [Full Text] [PDF]


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Copyright © 1983 by the American Association for Clinical Chemistry.