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3-Methyladipic acid is a catabolite of the branched-chain fatty acid phytanic acid (Item No. 90360), which is ingested via the diet.1 It is formed from phytanic acid via ω- and then β-oxidation in patients with adult Refsum disease, a disorder characterized by high levels of phytanic acid in the blood and tissues due to a deficiency in phytanoyl-CoA hydroxylase, the enzyme that converts phytanoyl-CoA (Item No. 10011499) to 2-hydroxyphytanoyl-CoA during peroxisomal β-oxidation.1,2,3 Urinary levels of 3-methyladipic acid have been used as a biomarker for the ω-oxidation of phytanic acid in patients with adult Refsum disease.1
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1. Metabolism of phytanic acid and 3-
2. The metabolism of phytanic acid and pristanic acid in man: A review. J. Inherit. Metab. Dis. 21(7), 697-728 (1998).
3. Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism. J. Lipid Res. 51(10), 2863-2895 (2010).