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January 1970

Phytanic Acid in Patients With Refsum's Syndrome and Response to Dietary Treatment

Author Affiliations

La Jolla, Calif, and Bethesda, Md; Bethesda, Md

From the Division of Metabolic Disease, Department of Medicine, University of California at San Diego, La Jolla (Dr. Steinberg), and the Laboratory of Metabolism, National Heart Institute (Drs. Steinberg, Mize, Herndon, and Fales) and the Medical Neurology Branch, National Institute of Neurologic Diseases and Stroke (Drs. Engel and Vroom), Bethesda, Md. Dr. Mize is now with the Department of Pediatrics and Dr. Herndon is with the Department of Medicine, University of Texas Southwestern Medical School, Dallas. Dr. Vroom is now with the Division of Neurology, University of Florida School of Medicine, Gainesville.

Arch Intern Med. 1970;125(1):75-87. doi:10.1001/archinte.1970.00310010077006

Metabolic studies in two patients with Refsum's syndrome provide further evidence that the phytanic acid stored has a strictly exogenous origin. On a highly restricted diet the phytanic acid levels in blood and in adipose tissue fell dramatically over a period of months. This was accompanied by a number of manifestations of clinical improvement, including increase in ulnar nerve conduction velocity, increase in strength of several muscle groups, return of some previously unobtainable reflexes, improvement in pain, light touch and position sense, and improvement in objective tests of coordination. There was no improvement in vision or hearing. The results support the hypothesis that accumulation of phytanic acid plays a pathogenetic role in Refsum's disease and justify further therapeutic trials.

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