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GLUCONEOGENESIS IN INFANCY AND CHILDHOOD III. Deficiency of the Extramitochondrial Form of Hepatic Phosphoenolpyruvate Carboxykinase in a Case of Persistent Neonatal Hypoglycaemia
Author(s) -
VIDNES JOSTEIN,
SØVIK ODDMUND
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.tb04890.x
Subject(s) - phosphoenolpyruvate carboxykinase , gluconeogenesis , medicine , endocrinology , pyruvate carboxylase , atrophy , fructose , enzyme , biochemistry , metabolism , biology
. A deficiency of extramitochondrial hepatic phosphoenolpyruvate carboxykinase has been demonstrated in a boy with severe, persistent neonatal hypoglycaemia. Hepatic glucose‐6‐phosphatase, fructose‐1.6‐diphosphatase and pyruvate carboxylase were normal. The total activity of phosphoenolpyruvate carboxykinase was also normal, but the enzyme showed an abnormal subcellular distribution, virtually no activity being detected in the extramitochondrial fraction of a liver homogenate. The boy died at the age of 2 years 10 months. Autopsy revealed severe cerebral atrophy, atrophy of the optic nerve, and fatty infiltration of liver and kidney.