Refsum Disease
Refsum's Disease is caused by an accumulation of phytanic acid in the tissues and blood due to a genetically determined inability to degrade this substance. The accumulation of phytanic acid causes impaired vision and hearing and peripheral neuropathy, that is, impaired sensation and strength in the distal parts of all extremities.
The disorder has an autosomal recessive pattern of inheritance, and its age of onset varies from early childhood to age 50. Symptoms usually appear, however, 20 years of age. Males and females are affected alike. Diagnostic, carrier, and prenatal testing is available.
Together with Cerebrotendinous Xanthomatosis (CTX), Refsum's disease is at this time, one of the most hopeful leukodystrophies. Phytanic acid is not made in the human body but comes exclusively from the diet, and thus restriction of certain foods such as dairy products, tuna fish, cod, haddock, lamb, stewed beef, white bread, white rice, boiled potatoes and egg yolk, further progress of the disease can be prevented and some of the symptoms improved. In addition, the supplement Plasmapheresis has been effective in providing a positive initial response.
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