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Refsum disease (RD) is a neurocutaneous syndrome that is
characterized biochemically by the accumulation of phytanic acid in
plasma and tissues. Patients with Refsum disease are unable to degrade
phytanic acid because of a deficient activity of phytanoyl-CoA
hydroxylase (PhyH), a peroxisomal enzyme catalyzing the first step of
phytanic acid alpha-oxidation.
Refsum first described this disease in 1946. Peripheral polyneuropathy, cerebellar ataxia,
retinitis pigmentosa, and
ichthyosis
are the major clinical components. The symptoms evolve slowly and
insidiously from childhood through adolescence and early adulthoo
