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.
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