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• W2079042612 abstract "Phytanic acid is a methyl-branched fatty acid present in the human diet. Due to its structure, degradation by beta-oxidation is impossible. Instead, phytanic acid is oxidized by alpha-oxidation, yielding pristanic acid. Despite many efforts to elucidate the alpha-oxidation pathway, it remained unknown for more than 30 years. In recent years, the mechanism of alpha-oxidation as well as the enzymes involved in the process have been elucidated. The process was found to involve activation, followed by hydroxylase, lyase and dehydrogenase reactions. Part, if not all of the reactions were found to take place in peroxisomes. The final product of phytanic acid alpha-oxidation is pristanic acid. This fatty acid is degraded by peroxisomal beta-oxidation. After 3 steps of beta-oxidation in the peroxisome, the product is esterified to carnitine and shuttled to the mitochondrion for further oxidation. Several inborn errors with one or more deficiencies in the phytanic acid and pristanic degradation have been described. The clinical expressions of these disorders are heterogeneous, and vary between severe neonatal and often fatal symptoms and milder syndromes with late onset. Biochemically, these disorders are characterized by accumulation of phytanic and/or pristanic acid in tissues and body fluids. Several of the inborn errors involving phytanic acid and/or pristanic acid metabolism have been characterized on the molecular level." @default.
• W2079042612 created "2016-06-24" @default.
• W2079042612 creator A5001782922 @default.
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• W2079042612 date "2001-11-01" @default.
• W2079042612 modified "2023-10-07" @default.
• W2079042612 title "Human metabolism of phytanic acid and pristanic acid" @default.
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• W2079042612 doi "https://doi.org/10.1016/s0163-7827(01)00011-x" @default.
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