AbstractPatients with Refsum disease accumulate significant quantities of phytanic acid in adipose and neural tissue. The accumulation can be reversed by following a diet low in phytanic acid, yet the mechanism of transport of this fatty acid is obscure. We investigated the distribution of phytanic acid in different lipoprotein subfractions in 11 patients with Refsum disease and 9 unaffected siblings. Plasma phytanic acid was distributed on VLDL (16.2%±12.2%), IDL (1.77%±1.64%), LDL (34.8%±12.6%) and HDL (14.3%±7.87%). No correlations with any parameter were seen with total phytanic acid content. Weak nonsignificant correlations were found with the fractional distribution of phytanic acid and VLDL triglyceride (r=0.35; p=0.12) and plasma HDL‐cholesterol (r=0.32; p=0.16) and with LDL:HDL cholesterol ratio (r=0.33; p=0.14). Significant correlation of the fractional distribution of phytanic acid on lipoprotein particles was noted with the ratio of apolipoprotein B:apolipoprotein A1‐containing particles (r=0.46; p=0.03) and apolipoprotein B:apolipoprotein A1 in HDL2 (r=0.53; p=0.01). This suggests that the import–export balance for phytanic acid in plasma is related to forward and reverse cholesterol transport on lipoprotein particles, and only weakly to plasma cholesterol and triglycerides. These ratios of apolipoprotein particles may play a significant role in determining the rate of phytanic acid elimination in patients with Refsum disease.