- Disease, Refsums
- A genetic disorder affecting metabolism of the fatty acid phytanic acid. When phytanic acid accumulates, it causes a number of progressive problems, including inflammation of numerous nerves (polyneuritis), diminishing vision due to retinitis pigmentosa, and wobbliness (ataxia) caused by damage to the cerebellar portion of the brain. Also known as phytanic acid storage disease.
Medical dictionary. 2011.