Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:4.1.1.32 (
phosphoenolpyruvate carboxykinase
)
4,204
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A deficiency of extramitochondrial form of 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.
...
PMID:Gluconeogenesis in infancy and childhood. III. Deficiency of the extramitochondrial form of hepatic phosphoenolpyruvate carboxykinase in a case of persistent neonatal hypoglycaemia. 17 69
