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Phytanic acid : ウィキペディア英語版
Phytanic acid

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Phytanic acid (or 3,7,11,15-tetramethyl hexadecanoic acid) is a branched chain fatty acid that humans can obtain through the consumption of dairy products, ruminant animal fats, and certain fish.〔Brown, P. J., Komen ''et al.'' 1993. The determination of phytanic acid and phytol in certain foods and the application of this knowledge to the choice of suitable convenience foods for patients with Refsum's disease. Journal of Human Nutrition and Dietetics 6, 295-305〕 Western diets are estimated to provide 50–100 mg of phytanic acid per day.〔Steinberg, D. Phytanic acid storage disease (Refsum's disease). In: Metabolic Basis of Inherited Disease. Edited by Stanbury JB, Wyngarden JB, Fredericksen DS, Goldstein JL, Brown MS, 5th edn. New York: McGraw Hill; 1983: 731-747.〕 In a study conducted in Oxford, individuals who consumed meat had, on average, a 6.7-fold higher geometric mean plasma phytanic acid concentration than did vegans.

==Human pathology==
Unlike most fatty acids, phytanic acid cannot be metabolized by β-oxidation. Instead, it undergoes α-oxidation in the peroxisome, where it is converted into pristanic acid by the removal of one carbon. Pristanic acid can undergo several rounds of β-oxidation in the peroxisome to form medium chain fatty acids that can be converted to carbon dioxide and water in mitochondria.
Individuals with adult Refsum disease, an autosomal recessive neurological disorder caused by mutations in the ''PHYH'' gene, have impaired α-oxidation activity and accumulate large stores of phytanic acid in their blood and tissues. This frequently leads to peripheral polyneuropathy, cerebellar ataxia, retinitis pigmentosa, anosmia, and hearing loss.

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