title: Neurological disorders and phytanic acid metabolism.
abstract: Fifty patients with neurological symptoms and signs resembling those of Refsum's disease were analyzed for phytanic acid in serum. In addition, the phytanic acid oxidase capacity in skin fibroblasts was determined. The patients suffered from retinitis pigmentosa, cerebellar ataxia and/or chronic polyneuropathy of unknown cause. The serum level of phytanic acid was not increased, and the alpha-oxidation of (1-14C) phytanic acid was found to be normal in all patients. The present investigation lends no support to the theory that so-called atypical or mild cases of Refsum's disease exist. This disorder appears to be a disease entity with a specific genetic phenotype.
authors.affiliation: Department of Neurology, Rikshospitalet, Oslo, Norway.
authors.forename: O H
authors.initials: OH
authors.lastname: Skjeldal
authors.forename: R
authors.initials: R
authors.lastname: Nyberg-Hansen
authors.forename: O
authors.initials: O
authors.lastname: Stokke
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002526:Cerebellar Diseases / Q000097:blood* / Q000201:enzymology; D002648:Child; D004537:Eicosanoic Acids / Q000097:blood*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D006899:Mixed Function Oxygenases; D010088:Oxidoreductases / Q000378:metabolism; D010831:Phytanic Acid / Q000097:blood* / Q000378:metabolism; D011115:Polyneuropathies / Q000097:blood* / Q000201:enzymology; D012174:Retinitis Pigmentosa / Q000097:blood* / Q000201:enzymology
chemical_list: D004537:Eicosanoic Acids; D010831:Phytanic Acid; D006899:Mixed Function Oxygenases; D010088:Oxidoreductases; C022397:phytanic acid alpha-oxidase