Lipoamide dehydrogenase: rapid heat inactivation in platelets of patients with recessively inherited ataxia

R A Kark, M M Budelli, D M Becker, L P Weiner, A B Forsythe
Neurology 1981, 31 (2): 199-202
The activity of lipoamide dehydrogenase was abnormally heat-labile in homogenized platelets from seven patients with as recessive ataxia conforming to the syndrome of Friedreich ataxia or clinical variants. Taken together, the abnormality and previous findings of low activity and abnormal kinetic properties are compatible with a change in the conformation of the enzyme in these patients.

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