3. Refsum's Disease (disorder of lipid metabolism)
a) Biochemical defect: deficiency of phytanic oxidase; increased phytanic
acid in plasma.
b) Clinical expression: peripheral neuropathy signs, sometimes cerebellar
signs.
c) Therapy: low phytol diet (phytol is a component of foods derived from
some plants).
d) Pathological Characteristics:
-hypertrophic interstitial neuropathy
-sometimes associated with cerebellar degeneration.