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.

• Authors: J Greter, S Lindstedt, G Steen
• Journal: Clinical chemistry (Clin Chem) Vol. 29 Issue 3 Pg. 434-7 (Mar 1983) ISSN: 0009-9147 [Print] England
• PMID: 6186413 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Acyclic Monoterpenes
• Adipates
• Dicarboxylic Acids
• Eicosanoic Acids
• Trimethylsilyl Compounds
• Phytanic Acid
• 3-methyladipic acid
• 2,6-dimethyloctane-1,8-dioic acid

Topics

• Acyclic Monoterpenes
• Adipates (urine)
• Adult
• Dicarboxylic Acids (urine)
• Eicosanoic Acids (metabolism)
• Gas Chromatography-Mass Spectrometry
• Humans
• Male
• Phytanic Acid (metabolism)
• Refsum Disease (metabolism, urine)
• Trimethylsilyl Compounds