What are symptoms of Refsum disease?

Individuals with Refsum disease are usually normal at birth, but between the ages of 10 and 20 years old, symptoms begin to develop starting with loss of night vision (retinitis pigmentosa), and eventually including weakness in arms and legs or unsteadiness (cerebellar ataxia).

Is Refsum disease treatable?

Although there is no cure, phytanate levels in Refsum disease patients can be reduced by plasmapheresis and a strict diet. Pharmacological up-regulation of the omega-oxidation of phytanic acid may form the basis of the new treatment strategy for adult Refsum disease in the near future.

What foods contain phytanic acid?

The sources of phytanic acid in the UK diet were confirmed to be foods derived from ruminant animals and fish. They include beef, lamb and products containing the milk fats of cows, sheep and goats. All fish were found to contain phytanic acid roughly in proportion to their fat content.

Where does phytanic acid come from?

Phytanic acid is a methyl-branched fatty acid present in the human diet, derived from the enzymatic degradation of phytol and subsequently oxidized by the rumenal microbiota and certain marine organisms.

Is arachidonic acid an omega 6 fatty acid?

In humans on a Western diet, the omega-6 polyunsaturated fatty acid arachidonic acid (ARA) makes a significant contribution to the fatty acids present in the membrane phospholipids of cells involved in inflammation.

What foods are high in phytanic acid?

Fish, lamb, beef, and dairy products are rich sources of phytanic acid. Restriction of dietary consumption to 10–20 mg/day is required to decrease serum levels.

What breaks down phytanic acid?

Degradation of phytanic acid takes place by alpha-oxidation inside the peroxisome. A deficiency of its breakdown, leading to elevated levels, can result from either a general peroxisomal dysfunction or from a defect in one of the enzymes involved in alpha-oxidation.