Friedreich ataxia
- 1 June 1979
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 29 (6), 820
- https://doi.org/10.1212/wnl.29.6.820
Abstract
Lipoamide dehydrogenase (LAD) kinetic values, Km and Vmax, were normal in 11 patients with Friedreich ataxia. Fibroblast activities of the pyruvate and α-ketoglutarate dehydrogenase complex, and LAD activities, were also normal. There was no reduction in oxidative decarboxylation of pyruvate, α-ketoglutarate, or several other substrates in intact fibroblasts. Methodologic differences may account for differences of opinion about putative abnormalities of the α-ketoacid dehydrogenase complexes.This publication has 8 references indexed in Scilit:
- Rapid diagnosis of pyruvate and ketoglutarate dehydrogenase deficiencies in platelet-enriched preparations from bloodClinica Chimica Acta; International Journal of Clinical Chemistry, 1977
- Lactic Acidosis in Three Sibs Due to Defects in Both Pyruvate Dehydrogenase and α-Ketoglutarate Dehydrogenase ComplexesPediatrics, 1976
- Sensitivity to Carbohydrate in a Patient with Familial Intermittent Lactic Acidosis and Pyruvate Dehydrogenase DeficiencyPediatric Research, 1976
- Low Activities of the Pyruvate and Oxoglutarate Dehydrogenase Complexes in Five Patients with Friedreich's AtaxiaNew England Journal of Medicine, 1976
- Lipoamide Dehydrogenase from Human LiverJournal of Biological Chemistry, 1967
- LIPOYL DEHYDROGENASE - FREE + COMPLEXED FORMS IN MAMMALIAN MITOCHONDRIA1964
- Statistical estimations in enzyme kineticsBiochemical Journal, 1961
- The identity of diaphorase and lipoyl dehydrogenaseBiochimica et Biophysica Acta, 1960