Localization of the oxidative defect in phytanic acid degradation in patients with refsum's disease

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Abstract

The rate of oxidation of phytanic acid-U-14C to 14CO2 in three patients with Refsum's disease was less than 5% of that found in normal volunteers. In contrast, the rate of oxidation of α-hydroxyphytanic acid-U-14C and of pristanic acid-U-14C to 14CO2, studied in two patients, while somewhat less than that in normal controls, was not grossly impaired. These studies support the conclusion that the defect in phytanic acid oxidation in Refsum's disease is located in the first step of phytanic acid degradation, that is, in the alpha oxidation step leading to formation of α-hydroxyphytanic acid.

Authors

Charles E. Mize, James H. Herndon Jr., John P. Blass, G. W. A. Milne, Charlotte Follansbee, Philippe Laudat, Daniel Steinberg