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Refsum disease: 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.
Refsum disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
Refsum disease (RD) is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and tissues.
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.
What causes Refsum disease? The peroxisome is responsible for the breakdown of certain branched chain fatty acids. A common branched chain fatty acid, phytanic acid, is ...
Disease characteristics. Refsum disease is characterized by anosmia (a universal finding) and early-onset retinitis pigmentosa with variable combinations of neuropathy ...