Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Refsum Disease
Introduction
Refsum Disease (also called Refsum’s Syndrome) is a genetic disorder that primarily affects the nervous system with a series of debilitating symptoms. Some symptoms include: degenerative nerve disease (peripheral neuropathy); vision loss (retinitis pigmentosa); loss of muscle control/coordination (ataxia); and possibly scaly, dry skin and scalp (ichthyosis).
Refsum’s Syndrome is thought to be caused by the accumulation of a branched fatty acid (phytanic acid) due to some malfunction in metabolism. This is thought to be caused by a faulty gene for an enzyme that metabolizes phytanic acid. There is no current pharmacological cure for the syndrome, but a diet low in phytanic acid can be of benefit to patients with Refsum’s Syndrome.
Plasma filtering to remove some of the dissolved phytanic acid from the blood is another common treatment.