Medical Definition of Refsum disease
Refsum disease: A genetic disorder that affects the 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. Refsum disease is caused by mutations in
Last Editorial Review: 6/9/2016
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