TWO CASES OF PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY
- 1 March 1976
- journal article
- case report
- Published by Wiley in Acta Paediatrica
- Vol. 65 (2) , 233-240
- https://doi.org/10.1111/j.1651-2227.1976.tb16543.x
Abstract
Two children are described who suffered from hypoglycemia and liver impairment. Assays of gluconeogenic enzymes in liver samples taken immediately after death demonstrated a deficiency of phosphoenolpyruvate carboxykinase, a key enzyme of gluconeogenesis. Post mortem examination demonstrated massive fat deposition in liver and kidney and to a lesser extent in other tissues. The fatty changes in liver and kidney could be explained by the absence of phosphoenolpyruvate carboxykinase, which would cause an alteration in the mitochondrial-cytosolic processes related to gluconeogenesis.Keywords
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