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Daniel Steinberg, MD; Charles E. Mize, MD; James H. Herndon, Jr., MD; Henry M. Fales, PhD; W. King Engel, MD; Frederic Q. Vroom, MD

Arch Intern Med. 1970;125(1):75-87.

Abstract
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.

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.

Footnotes
Received for publication June 20, 1969; accepted July 23.

Reprint requests to Division of Metabolic Disease, Department of Medicine, University of California at San Diego, La Jolla, Calif 92037 (Dr. Steinberg).

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