Refsum's syndrome

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).

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Refsum's Syndrome is thought to be caused by the accumulation of a branched fatty acid (phytanic acid) due to some malfunction in metabolism, probably a deficiency in phytanoyl CoA hydroxylase . This is thought to be caused by a faulty gene that codes for this 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.

Resources

WebMD Family Resource Page for Refsum Disease