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Plasma and skin fibroblast C₂₆ fatty acids in infantile Refsum's disease

From the Department of Chemical Pathology, The Adelaide Children's Hospital, North Adelaide, South Australia.

In infantile and adult Refsum's disease, the activity of phytanic acid oxidase is low in skin fibroblasts, but plasma phytanic acid levels are high. Cultured skin fibroblasts and plasma from patients with the infantile, but not the adult, disorder show marked increases in the concentration of the long-chain fatty acid, hexacosanoic acid (C₂₆), a feature once thought pathognomonic of adrenoleukodystrophy or Zellweger's syndrome.

Address correspondence and reprint requests to Dr. Poulos, Department of Chemical Pathology, The Adelaide Children's Hospital, Inc., North Adelaide, South Australia, 5006.

Accepted for publication March 26, 1984.