A genetic disorder affecting 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 the PAHX gene on chromosome 10 that encodes the enzyme phytanoyl-CoA hydroxylase (PAHX). Also known as phytanic acid storage disease.
Common Misspellings: refsum diease, refsum desease
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