Hostname: page-component-848d4c4894-2pzkn Total loading time: 0 Render date: 2024-05-20T00:00:25.972Z Has data issue: false hasContentIssue false
  • English
  • Français

Serum and Platelet Lipoamide Dehydrogenase in Friedreich's Ataxia

Published online by Cambridge University Press:  18 September 2015

A. Filla ,
R. F. Butterworth ,
G. Geoffroy ,
B. Lemieux  and
A. Barbeau
A. Filla
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal, Hôpital Sainte-Justine, Montreal; and Centre Hospitalier Universitaire de Sherbrooke
R. F. Butterworth
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal, Hôpital Sainte-Justine, Montreal; and Centre Hospitalier Universitaire de Sherbrooke
G. Geoffroy
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal, Hôpital Sainte-Justine, Montreal; and Centre Hospitalier Universitaire de Sherbrooke
B. Lemieux
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal, Hôpital Sainte-Justine, Montreal; and Centre Hospitalier Universitaire de Sherbrooke
A. Barbeau*
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal, Hôpital Sainte-Justine, Montreal; and Centre Hospitalier Universitaire de Sherbrooke
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada H2W 1R7
Rights & Permissions [Opens in a new window]

Summary:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Pyruvate dehydrogenase (PDH), α -keto gluturate dehydrogenase (α -KGDH) and lipoamide dehydrogenase (LAD) were measured in platelets of II patients with typical Friedreich's ataxia and 10 normal control subjects. Serum LAD was also evaluated in the same patients. No statistically significant changes were found in platelets for the group as a whole, although some patients had low values (more than one standard deviation below control mean). Serum LAD was significantly reduced in the patients with Friedreich's ataxia. This was not due to associated diabetes.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Information
Canadian Journal of Neurological Sciences , Volume 5 , Issue 1 , February 1978 , pp. 111 - 114
Copyright
Copyright © Canadian Neurological Sciences Federation 1978

References

REFERENCES

Barbeau, A., Butterworth, R.F., Breton, Q., Melançon, S., Shapcott, D. Geoffroy, G. and Lemieux, B (1976). Pyruvate Metabolism in Friedreich’s ataxia. Can. J. Neurol. Sci., 3, 379–388.CrossRefGoogle ScholarPubMed
Blass, J.P., Cederbaum, S.D. and Kark, R.A.P. (1977). Rapid diagnosis of pyruvate and ketoglutarate dehydrogenase deficiencies in platelet-enriched preparation from blood. Clin. Chim. Acta, 75, 21–30.Google Scholar
Blass, J.P., Kark, R.A.P. and Menon, N.K. (1976). Low activities of the pyruvate and oxoglutarate dehydrogenase complexes in five patients with Friedreich’s ataxia. New Engl. J. Med., 295, 62–67.Google Scholar
Blass, J.P., Kark, R.A.P. and Rodriguez-Budelli, M. (1977). Pyruvate dehydrogenase deficiency in spinocerebellar degenerations. Clin. Res., 25, 321A.Google Scholar
Butter Worth, R.F., Izumi, K., Landreville, F. and Barbeau, A. (1977). Dosage de la pyruvate déshydrogénase musculaire dans deux modeles expérimentaux d’ataxie. Union Méd. Can., 106, 468–471.Google Scholar
Geoffroy, G., Barbeau, A., Breton, G., Lemieux, B., Aube, M., Leger, C. and Bouchard, J.P. (1976). Clinical description and roentgenologic evaluation of patients with Friedreich’s ataxia. Can. J. Neurol. Sci., 3, 279–286.Google Scholar
Kark, R.A.P., Blass, J.P. and Engel, W.K. (1974). Pyruvate oxidation in neuromuscular diseases — Evidence of a genetic defect in two families with the clinical syndrome of Friedreich’s ataxia. Neurology, 24, 964–971.CrossRefGoogle ScholarPubMed
Lowry, O.H., Rosebrough, N.J., Farr, A.L. and Randall, R.J. (1951). Protein measurement with the folin phenol reagent. J. Biol. Chem., 93, 265–275.Google Scholar
Melançon, S.B., Potier, M., Dal-Laire, L., Geoffroy, G., Lemieux, L. and Barbeau, A. (1977). Serum lipoamide dèhydrogenase in Friedreich’s ataxia. Pediat. Res., 2, 460.Google Scholar
Pelley, J.W., Little, G.H., Linn, T.C. and Hall, F.F. (1976). Lipoamide dehydrogenase in serum; a preliminary report. Clin. Chem., 22/2, 275–277.Google Scholar
Reed, L.H. and Cox, D.J. (1966). Macromolecular organization of enzyme systems. Ann. Rev. Biochem., 35, 57–84.Google Scholar