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Refsum’s disease

An unusual genetic disorder that afflicts lipid metabolism (the processing of fats within the body). Refsum’s disease causes extremely high levels of phytani aid, a fatty acid, in the body.

One major symptom is polyneuritis (inflammation of nerves). This can result in numbness and weakness, usually affecting the limbs. Other frequently seen features are a visual defect called retinitis, ataxia (unsteady gait caused by damage to the brains cerebellum), and pigmentosa. Symptoms often appear before the age of twenty. The disease is progressive, although there are points of remission.

Those people with Refsum’s disease are advised to steer clear of all foods containing phytanic acid. The main dietary sources of this substance are meat from animas that feed on grass (sheep , cows, and goats) and dairy products.


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