Refsum disease is a result of 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 eaten through dairy, beef, lamb and fish.
Refsum can be devastating if undiagnosed. Symptoms include:
- Retinitis pigmentosa (peripheral vision loss, night blindness, blindness)
- Anosmia (Loss of smell)
- Polyneuropathy (nerve pain and numbness)
- Hearing Loss
- Ataxia (loss of balance, muscle weakness)
- Ichthyosis (scaly skin)
- Short metacarpals and metarsals
- Cardiac arrhythmias