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.
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Abbreviations
- PEPCK:
-
phosphoenolpyruvate carboxykinase
References
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Leonard, J.V., Hyland, K., Furukawa, N. et al. Mitochondrial phosphoenolpyruvate carboxykinase deficiency. Eur J Pediatr 150, 198–199 (1991). https://doi.org/10.1007/BF01963566
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DOI: https://doi.org/10.1007/BF01963566