Two cases of phosphoenolpyruvate carboxykinase deficiency.
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.
D005227:Fatty Acids / Q000378:metabolism; D005943:Gluconeogenesis; D005952:Glucose-6-Phosphatase / Q000378:metabolism; D006801:Humans; D006949:Hyperlipidemias / Q000201:enzymology; D007003:Hypoglycemia / Q000201:enzymology; D007223:Infant; D008099:Liver / Q000201:enzymology / Q000378:metabolism / Q000473:pathology; D008297:Male; D010729:Phosphoenolpyruvate Carboxykinase (GTP) / Q000172:deficiency* / Q000378:metabolism; D011766:Pyruvate Carboxylase / Q000378:metabolism
D005227:Fatty Acids; D005952:Glucose-6-Phosphatase; D010729:Phosphoenolpyruvate Carboxykinase (GTP); D011766:Pyruvate Carboxylase