Refsum Disease, also known as classic adult Refsum Disease is an autosomal recessive neurological disease that results in the over accumulation of phytanic acid in cells and tissues. Refsum Disease typically sets in during adolescence and is diagnosed by above average levels of phytanic acid. Symptoms are:
• Scaly skin
• Difficulty in hearing
• Eye problems
• Hearing loss
HOW IS REFSUM DISEASE DIAGNOSED?
Refsum Disease can be diagnosed by a blood or urine test which would show the presence of phytanic acid.
HOW IS REFSUM DISEASE TREATED?
Treatment of Refsum disease involves following a strict diet low in phytanic acid (found in dairy products, beef, lamb and some seafoods) and high in calories. The removal and reinfusion of blood plasma (plasmapheresis) may also be required. Other treatment is symptomatic and supportive.
DID YOU KNOW?
Refsum Disease is named after the Norwegian neurologist Sigvald Bernhard Refsum.