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Amino Acid Metabolism in Friedreich's Ataxia

Published online by Cambridge University Press:  18 September 2015

B. Lemieux ,
A. Barbeau ,
V. Beroniade ,
D. Shapcott ,
G. Breton ,
G. Geoffroy  and
S. Melançon
B. Lemieux
Affiliation:
Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montreal; the Clinical Research Institute of Montreal, and the Hôpital Ste-Justine de Montreal
A. Barbeau*
Affiliation:
Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montreal; the Clinical Research Institute of Montreal, and the Hôpital Ste-Justine de Montreal
V. Beroniade
Affiliation:
Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montreal; the Clinical Research Institute of Montreal, and the Hôpital Ste-Justine de Montreal
D. Shapcott
Affiliation:
Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montreal; the Clinical Research Institute of Montreal, and the Hôpital Ste-Justine de Montreal
G. Breton
Affiliation:
Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montreal; the Clinical Research Institute of Montreal, and the Hôpital Ste-Justine de Montreal
G. Geoffroy
Affiliation:
Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montreal; the Clinical Research Institute of Montreal, and the Hôpital Ste-Justine de Montreal
S. Melançon
Affiliation:
Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montreal; the Clinical Research Institute of Montreal, and the Hôpital Ste-Justine de Montreal
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal H2W 1R7 Quebec, Canada
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A study of amino acids determined by sequential Multi-sample Amino Acid Automatic Analyzer in plasma, urine and cerebrospinal fluid (CSF) in patients with Friedreich's ataxia and control subjects has revealed a number of mathematically significant variations from normal. Of practical physiological importance are the following: a high urinary excretion of alanine with slightly elevated plasma levels; a low plasma and CSF concentration of aspartic acid in the resence of normal urinary values and finally a low CSF concentration of taurine accompanied by normal plasma levels, but elevated urinary output and renal clearance rates. We postulate that the modifications in alanine and aspartic acid are less specific and probably secondary, but there could be a genetic defect in the membrane transport of taurine and the other β-amino acids in Friedreich's ataxia.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Information
Canadian Journal of Neurological Sciences , Volume 3 , Issue 4 , November 1976 , pp. 373 - 378
Copyright
Copyright © Canadian Neurological Sciences Federation 1976

References

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