Article
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.
Nature genetics - 1 Oct 1997
Jansen G A, Ofman R, Ferdinandusse S, Ijlst L, Muijsers A O, Skjeldal O H, Stokke O, Jakobs C, Besley G T, Wraith J E, Wanders R J
Abstract excerpt
Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF. All patients exhibit accumulation of an unusual branched-chain fatty acid, phytanic acid...
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