PHYTANIC ACID OF GLYCEROLIPIDS IN SERA FROM 2 SIBLING PATIENTS WITH REFSUMS DISEASE AND THEIR PARENTS

Phytanic acid, an unusual 20-carbon, branched chain fatty acid was fou nd not only in the serum lipids of two siblings with Refsum's disease, but also in those of their parents. The family is of European ethnic origin. The serum lipids of the proband, the eldest daughter, her sist er, mother and father contained 6.8, 20.2, 8.1, and 0.3 mg of phytanic acid/100 ml of serum, respectively, while healthy Japanese persons ha ve only trace amounts. It was noted that phytanic acid was detectable mainly in glycerolipids such as triacylglycerol, phosphatidylcholine, phosphatidylethenolamine and lysophosphatidylcholine, but not in nongl ycerolipids such as cholesteryl ester and sphingomyelin. The specific incorporation of exogenous phytanic acid into these glycerolipids was analyzed in terms of the biosynthesis of both glycerolipids and non-gl ycerolipids and the pathogenesis of Refsum's disease.