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Active Pyruvate Dehydrogenase In Platelets From Friedreich's Ataxia Patients

Published online by Cambridge University Press:  18 September 2015

A. Filla
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
R.F. Butterworth
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
A. Barbeau*
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada, H2W 1R7
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Summary:

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Pyruvate dehydrogenase (PDH) activity was measured in platelets from 10 patients with Friedreich's ataxia, and 10 age-matched healthy control subjects. Both total PDH and active PDH activity were measured. There were no significant differences between the two groups.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Copyright
Copyright © Canadian Neurological Sciences Federation 1980

References

Blass, J.P., Kark, R.A.P. and Engel, W.K. (1971): Clinical studies of a patient with pyruvate decarboxylase deficiency. Arch. Neurol. 25: 449460.CrossRefGoogle ScholarPubMed
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. N. Engl. J. Med. 295: 6267.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 preparations from blood. Clin. Chim. Acta 75: 2130.CrossRefGoogle ScholarPubMed
Falk, R.E., Cederbaum, S.D., Blass, J.P., Gibson, G.E., Kark, R.A.P., and Carrel, R.E. (1976): Ketonic diet in the management of pyruvate dehydrogenase deficiency. Pediatrics 58: 713721.CrossRefGoogle ScholarPubMed
Farrell, D.F., Clark, A.F., Scott, C.R., Wennberg, R.P. (1974): Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis. Science 187: 10821084.CrossRefGoogle Scholar
Filla, A., Butterworth, R.F., Geoffroy, G., Lemieux, B., and Barbeau, B. (1978): Serum and platelet lipoamide dehydrogenase in Friedreich’s ataxia. Can. J. Neurol. Sci. 5: 111114.CrossRefGoogle ScholarPubMed
Geoffroy, G., Barbeau, A., Breton, G., Lemieux, B., Aube, M., Leger, C, Bouchard, J.P. (1976): Clinical description and roentgenologic evaluation of patients with Friedreich’s ataxia. Can. J. Neurol. Sci. 5: 279286.CrossRefGoogle Scholar
Linn, T.C., Pelley, J.W., Pettit, F.H., Hucho, F., Randall, D.D., and Reed, L.J. (1972): α-Keto acid dehydrogenase complex XV. Purification and properties of the component enzymes of the pyruvate dehydrogenase complexes from bovine kidney and heart. Arch. Biochem. Biophys. 148: 327342.CrossRefGoogle Scholar
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: 265275.CrossRefGoogle Scholar
Kark, R.A.P., Rodriguez-Budelli, M. (1977): Lipoamide dehydrogenase deficiency in a patient with Friedreich’s ataxia. Clin. Res. 25: 131 A.Google Scholar
Kark, R.A.P., Rodriguez-Budelli, M., Perman, S., Gulley, W.F. and Torok, K. (1980): Pre-clinical diagnosis and carrier detection in ataxia associated with abnormalities of lipoamide dehydrogenase. Neurology 30: 502508.CrossRefGoogle Scholar
Oka, Y., Matjuda, I., Arashima, S., Anakura, M., Mitjuyama, T. and Nagamatsu, I. (1976): Citrate treatment in a patient with pyruvate decarboxylase deficiency. Tohoku J. Exp. Med. 118: 131135.CrossRefGoogle Scholar
Reed, L.J. (1974): Multienzyme complexes. Accounts of Chem. Res. 7: 4046.CrossRefGoogle Scholar
Reynolds, J.F. and Blass, J.P. (1976): A possible mechanism for selective cerebellar damage in partial dehydrogenase deficiency. Neurology 26: 625628.CrossRefGoogle ScholarPubMed
Stumpf, D.A. and Parks, J.K. (1978): Friedreich’s ataxia: I. Normal pyruvate dehydrogenase complex activity in platelets. Am. Neurol. 4: 366368.CrossRefGoogle ScholarPubMed
Wick, H., Schweizer, K., Baumgartner, R. (1977): Thiamine dependency in a patient with congenital lacticacidoemia due to pyruvate dehydrogenase deficiency. Agents and Actions 7: 405410.CrossRefGoogle Scholar
Wieland, D., Siess, E., Schulze-Wethmar, F.H., V. Funke, H.G. and Winton, B. (1971): Active and inactive forms of pyruvate dehydrogenase in rat heart and kidney: effect of diabetes, fasting and refeeding on pyruvate dehydrogenase inter-conversion. Arch. Biochem. Biophys. 143: 593601.CrossRefGoogle Scholar