Global DARE Foundation

Adult Refsum disease is a metabolic disorder caused by a number of faulty genes (principally PHYH) which affect the pathway that degrades a plant-derived chemical called phytol which some bacteria found in ruminant animals and fish turn into Phytanic Acid. In humans if phytanic acid is not degraded it accumulates in nerves, liver and fat. Phytanic acid is not produced in the body but found in some foods as a result of the bacterial fermentation of green plants or algae. The highest concentration of phytanic acid is found in dairy products, beef, lamb and some fish products. Refsum disease can be life threatening if undiagnosed.