| Autor: |
Birch-Machin, M. A., Shepherd, I. M., Solomon, M., Yeaman, S. J., Gardner-Medwin, D., Sherratt, H. S. A., Lindsay, J. G., Aynsley-Green, A., Turnbull, D. M. |
| Zdroj: |
Journal of Inherited Metabolic Disease; June 1988, Vol. 11 Issue: 2 p207-217, 11p |
| Abstrakt: |
Pyruvate dehydrogenase complex deficiency is thought to be a common cause of lactic acidosis. We report a patient with lactic acidosis and intermittent weakness. The rate of oxidation of pyruvate by intact skeletal muscle and liver mitochondrial fractions was impaired and pyruvate dehydrogenase complex (PDC) activity was low. The amounts of immunoreactive dihydrolipoyl transacetylase and dihydrolipoyl dehydrogenase in liver and skeletal muscle mitochondrial fractions from the patient were normal. However, there were markedly lower concentrations of both theaandßsubunits of the E1 component of PDC. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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