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  • Title: Leukocyte valine dehydrogenase activity in Friedreich's ataxia.
    Author: Barbeau A, Cloutier T, Charbonneau M.
    Journal: Can J Neurol Sci; 1982 May; 9(2):235-8. PubMed ID: 7104889.
    Abstract:
    We studied the activity of valine dehydrogenase (VDH) in leukocytes of 14 Friedreich's ataxia patients and of 14 normal control subjects. There was a significant 26% mean decrease in enzyme activity in the patients, a finding which could be responsible for the chronic accumulation of some alpha-keto acids with toxic metabolic consequences in that disease. However the deficiency was not present in all patients with the typical symptoms, nor was its magnitude sufficient to be considered the primary genetic defect in Friedreich's Ataxia.
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