Abstract
Friedreich's Ataxia patients were recently shown to have reduced activity of pyruvate dehydrogenase (PDH) and 2-oxoglutarate dehydrogenase (OGD) in disrupted skin fibroblasts. As part of the Quebec Cooperative Study of Friedreich's Ataxia we have measured the third step in the dehydrogenase complex of PDH and OGD, namely lipoamide dehydrogenase (LAD) in the serum of 18 patients with Friedreich's Ataxia and 12 normal subjects.
Results in kUnits/L were as follows:
When taken as a group, Friedreich's patients show 47% of control activity. This value is comparable to 43% PDH and 50% OGD activities reported by Blass et al.(N.Engl.J.Med., 295:62-67, 1976) in cultured fibroblasts. LAD values under the lowest control figure of 2.25 kU/L were observed in 9 patients. A LAD deficiency in tissues of Friedreich's Ataxia patients could account for low oxidation of pyruvate and 2-oxoglutarate as well as the major clinical findings in this severely debilitating autosomal recessive familial disorder. Further enzymatic studies are currently under way in our laboratories using cultured skin fibroblasts from the above patients.
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Melancon, S., Potier, M., Dallaire, L. et al. SERUM LIPOAMIDE DEHYDROGENASE IN FRIEDREICH'S ATAXIA. Pediatr Res 11, 460 (1977). https://doi.org/10.1203/00006450-197704000-00540
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DOI: https://doi.org/10.1203/00006450-197704000-00540
