Treatments for Refsum disease

Is there any treatment?

The primary treatment for ARD is to restrict or avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Some individuals may also require plasma exchange (plasmapheresis) in which blood is drawn, filtered, and reinfused back into the body, to control the buildup of phytanic acid.

Source: NINDS (NIH)1

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Our bodies can not synthesize phytanic acid: we have to obtain all of it from our food. Therefore, prolonged treatment with a diet deficient in phytanic acid can be beneficial.

Source: NCBI, Genes and Disease (NCBI/NIH)2

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References

  1. Source: NINDS (NIH): ninds.nih.gov/ disorders/ refsum/ refsum.htm
  2. Source: NCBI, Genes and Disease (NCBI/NIH): ncbi.nlm.nih.gov/ books/ NBK22208/ 

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.