Definition
Refsum disease is a rare metabolic disease characterized by retinitis pigmentosa, ataxia and peripheral neuropathy, resulting from phytanic acid accumulation.
Symptoms
- Retinitis pigmentosa
- Ataxia
- Peripheral neuropathy
- Hearing loss
Reasons
PHYH or PEX7 gene mutations.
Diagnosis
Plasma phytanic acid level.
Treatment
Dietary restriction.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of cardiac arrhythmia, emergency services should be consulted.
This page is for general information purposes only.