Mitochondrial phosphoenolpyruvate carboxykinase deficiency
- 1 January 1991
- journal article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 150 (3) , 198-199
- https://doi.org/10.1007/bf01963566
Abstract
The sibling of a patient in whom a diagnosis of phosphoenolpyruvate carboxykinase had been made developed a similar clinical illness with liver failure. However the activity of phosphoenolpyruvate carboxykinase in leucocytes and fibroblasts was normal. Phosphoenolpyruvate carboxykinase is not the primary defect in this family.Keywords
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