Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?

Abstract

The activity of phytanic acid oxidase is low in infantile and adult Refsum''s disease, and in the cerebro-hepato-renal (Zellweger''s) syndrome. The plasma of patients with the infantile but not the adult form of Refsum''s disease contains increased amounts of pipecolic acid and of at least 2 abnormal bile acids, one of which was identified as 3.alpha., 7.alpha., 12.alpha. trihydroxy-5.beta.-cholestan-26-oic acid. These changes are similar to those reported in the Zellweger syndrome and indicate that there may be similarities in the metabolic defects in Zellweger''s syndrome and the infantile form of Refsum''s disease.