Case Reports
doi: 10.1111/j.1651-2227.1976.tb16543.x.
Two cases of phosphoenolpyruvate carboxykinase deficiency
- PMID: 176867
- DOI: 10.1111/j.1651-2227.1976.tb16543.x
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Case Reports
Two cases of phosphoenolpyruvate carboxykinase deficiency
Acta Paediatr Scand.
1976 Mar.
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.
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