Indications of only a Partial Defect in the a-Oxidation Mechanism in Refsum's Disease

Abstract

Due to a failure in the α-oxidation mechanism, patients with Refsum's disease accumulate phytanic acid derived from the diet. The metabolism of two 3-methyl substituted fatty acids, 3,6-dimethyloctanoic acid and 3,14,14-trimethylpentadecanoic acid, has been studied at very low levels of phytanic accumulation to avoid the effects of substrate competition. The results show that patients with Refsum's disease can degrade low but significant amounts of these acids. As these acids, in contrast to phytanic acid, are blocked for degradation from the ω-end, the results indicate that the failure in the α-oxidation mechanism is only partial.

Key Words:

• Refsum's syndrome
• lipid metabolism
• inborn errors