Normalization of the Tricaprin Test for ω-Oxidation in Refsum's Disease upon Lowering of Serum Phytanic Acid

Abstract

The ability of patients with Refsum's disease to ω-oxidize fatty acids has been followed by the tricaprin test during the course of lowering serum phytanic acid by dietary treatment. At high levels of phytanic acid accumulation, the test reveals an interference with the ω-oxidation system. Lowering of the phytanic acid normalizes the test, indicating that the primary cause of phytanic acid accumulation is not to be found in the ω-oxidizing system.

Key Words:

• Refsum's syndrome
• lipid metabolism
• inborn errors