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What is Refsum disease (Refsum syndrome)?

Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991). Refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid.

What is adult Refsum disease (ARD)?

Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy).

Is refrefsum a dominant or recessive trait?

Refsum disease is inherited as a recessive trait. The genes responsible for the failure in the metabolism of phytanic acid have been traced to the short arm of chromosome 10 (10pter-p11.2) and the long arm of chromosome 6 (6q22-q24).

What are the dietary restrictions for patients with Refsum disease?

Since phytanic acid is not endogenously produced in the human body, individuals with Refsum disease are commonly placed on a phytanic acid-restricted diet and avoid the consumption of fats from ruminant animals and certain fish, such as tuna, cod, and haddock.


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