Refsum Lipid Metabolism Disease Causes Phytanic Acid Accumulation Symptoms for Diet Treatment

Refsum disease, aka phytanic acid storage disease, is a rare lipid metabolism genetic disorder that causes an accumulation of phytanic acid in your body. Classified as a leukodystrophy, those with the disease lack the necessary enzyme to metabolize phytanic acid, a fatty acid that is found in lipids. Thus, a toxic level of phytanic acid accumulates in your brain, blood and other tissue.

Phytanic acid is not produced by your body, but it’s a fatty acid that’s consumed via lipid (fat) containing foods in your diet. For example meat, dairy and certain fish products.

One of the earliest symptoms of Refsum disease is night blindness. As the lipid metabolism disease progresses, other phytanic acid accumulation caused signs and symptoms may develop, like:

These signs and symptoms evolve slowly and insidiously from childhood.

The primary treatment for Refsum disease is diet exclusion of lipid containing foods because they include phytanic acid, such as:

  • beef
  • lamb
  • dairy products
  • fatty fish ~ tuna, cod, haddock
  • milk fats from cows, sheep, goats

You’ll also need to avoid baked goods that contain fat blends that include animal lipids. And there’s not a significant amount of phytanic acid in any vegetables, so this insufficiency doesn’t warrant their exclusion.

In some cases, treatment of this lipid metabolism disease requires plasmapheresis to control phytanic acid accumulation. And you may be prescribed keratolytics, a topical skin care drug that softens any scaly skin accumulation.

With diet treatment many of your symptoms may disappear. However, vision, hearing and sense of smell problems may persist or never resolve. Untreated Refsum lipid metabolism disease can be fatal due to heartbeat abnormalities.

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