title: 2,6-Dimethyloctanedioic acid--a metabolite of phytanic acid in Refsum's disease.
abstract: 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.
mesh_terms: D000080462:Acyclic Monoterpenes; D000272:Adipates / Q000652:urine; D000328:Adult; D003998:Dicarboxylic Acids / Q000652:urine*; D004537:Eicosanoic Acids / Q000378:metabolism*; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D008297:Male; D010831:Phytanic Acid / Q000378:metabolism*; D012035:Refsum Disease / Q000378:metabolism* / Q000652:urine; D014297:Trimethylsilyl Compounds
chemical_list: D000080462:Acyclic Monoterpenes; D000272:Adipates; D003998:Dicarboxylic Acids; D004537:Eicosanoic Acids; D014297:Trimethylsilyl Compounds; D010831:Phytanic Acid; C033274:3-methyladipic acid; C037294:2,6-dimethyloctane-1,8-dioic acid