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TWO CASES OF PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY
Author(s) -
HOMMES F. A.,
BENDIEN K.,
ELEMA J. D.,
BREMER H. J.,
LOMBECK I.
Publication year - 1976
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1976.tb16543.x
Subject(s) - phosphoenolpyruvate carboxykinase , gluconeogenesis , hypoglycemia , medicine , endocrinology , enzyme , cytosol , biochemistry , biology , metabolism , diabetes mellitus
. 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.