1976•Acta PaediatricaRequires access
TWO CASES OF PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY
F.A. Hommes, K. BENDIEN, J. D. Elema, H. J. Bremer, I. Lombeck
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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.