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Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

✍ Scribed by Jansen, Gerbert A.; Oftnan, Rob; Ferdinandusse, Sacha; Ijlst, Lodewijk; Muijsers, Anton O.; Skjeldal, Ola H.; Stokke, Oddvar; Jakobs, Cornells; Besley, Guy T.N.; Wraith, J. Ed

Book ID: 109918335
Publisher: Nature Publishing Group
Year: 1997
Tongue: English
Weight: 485 KB
Volume: 17
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1097-190

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## Communicated by Johannes Zschocke Refsum disease has long been known to be an inherited disorder of lipid metabolism characterized by the accumulation of phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) caused by an a-oxidation deficiency of this branched chain fatty acid in peroxisomes.

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