Refsum's disease is due to accumulation of
Refsum disease is a rare neurologic disorder due to a metabolic defect that results in the accumulation of phytanic acid, which is found in dairy productsand ruminant fat and meat. Phytanic acid is thought to have pathological effects on membrane function, protein prenylation, and gene expression.Ref: Harper&;s Biochemistry; 30th edition; Chapter 22; Oxidation of Fatty Acids: Ketogenesis
C26-C38 polyenoic acids
C6-C10 o-dicarboxylic acids
Palmitic acid
Phytanic acid
Enzymes