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What is the pathophysiology of Refsum disease?

Refsum disease. Refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid. Humans obtain the necessary phytanic acid primarily through diet. It is still unclear what function phytanic acid plays physiologically in humans, but has been found to regulate fatty acid metabolism in the liver of mice.

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 Refsum disease recessive or dominant?

Refsum disease. Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues.

What are the treatment options for Refsum disease?

There are currently two available treatment regimens for Refsum Disease. The first treatment is a strict diet low in phytanic acid and is used for long-term management. Dietary restriction of phytanic acid intake helps lessen or resolve ichthyosis, sensory neuropathy, and ataxia.

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