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What is Refsum

Disease?

Refsum disease is caused by a faulty gene (PHYH or PEX7) which results in the lack of an enzyme that doesn’t allow the oxidation of a fatty acid called Phytanic Acid and it accumulates in the blood and fat tissues. Phytanic acid is not produced in the body but found in many foods. The highest concentration of phytanic acid is found in dairy, beef, lamb and some fish. 

 

Refsum can be life threatening if undiagnosed. Symptoms include:

  • Retinitis pigmentosa (peripheral vision loss, night blindness, blindness)

  • Anosmia (Loss of Smell)

  • Polyneuropathy (nerve pain and numbness)

  • Hearing Loss

  • Ataxia (e.g. loss of balance, muscle weakness)

  • Ichthyosis (scaly skin)

  • Short metacarpals and metatarsals

  • Cardiac arrhythmias

 

Refsum disease currently has no cure. There is a strict diet to follow to stop life threatening symptoms and slow the progression of some symptoms.  However, it is not enough to stop a significant impact to the quality of life of Refsum patients.  Better therapeutic methods and ultimately a cure is needed.

Also see Gene Reviews for more information

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