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Leukocyte Valine Dehydrogenase Activity in Friedreich’s Ataxia

Published online by Cambridge University Press:  18 September 2015

A. Barbeau ,
T. Cloutier  and
M. Charbonneau
A. Barbeau*
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
T. Cloutier
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
M. Charbonneau
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montréal, Quebec, Canada, H2W 1R7
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Summary:

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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 α-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 A taxia.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 9 , Issue 2 , May 1982 , pp. 235 - 238
Copyright
Copyright © Canadian Neurological Sciences Federation 1982

References

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