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Case Reports
. 1983 Mar;29(3):434-7.

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

J Greter, S Lindstedt, G Steen
  • PMID: 6186413
Case Reports

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

J Greter et al. Clin Chem. 1983 Mar.

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.

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