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Pyruvate oxidation in Charcot-Marie-Tooth disease

Columbus Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, Ohio.

Significant differences were found in pyruvate oxidation of disrupted skin fibroblasts from patients with Charcot-Marie-Tooth disease (CMT) or neuromuscular disease controls and normal controls, but there was a similar oxidative defect in both disease groups. "Heritable heterogeneity in situ" and additional enzyme faults may explain the normal activity of pyruvate dehydrogenase in some explants, and the lack of correlation between enzyme activity and CMT symptoms. Since experimental, histochemical, and microscopic studies support the concept of localized hypoxia in perineural or neural cells in CMT, the peripheral location of the defect suggests an inherited susceptibility to environmental influences in these cells.

Address reprint requests to Dr. Williams, Columbus Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH 43205.

Supported by Children's Hospital Research Foundation Grants Nos. 81-773,74-773, and OSU Clinical Research Center Grant No. 76H-190.

Accepted for publication April 13, 1979.