Last reviewed 01/2018
Refsum's disease is a rare autosomal recessive disorder which presents as a sensorimotor polyneuropathy during the second decade or later.
In this condition lipid metabolism is abnormal. This abnormality results in excessive phytanic acid in fat, the kidneys, the liver and nerves. Characteristic of Refsum's disease is a reduction in plasmalogens (a type of phospholipid) and increased plasma levels of phytanic acid and pipecolic acid.