Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia.

@article{Weinstein2006HepaticGS,
  title={Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia.},
  author={David A. Weinstein and Catherine E. Correia and Andrew C Saunders and Joseph I. Wolfsdorf},
  journal={Molecular genetics and metabolism},
  year={2006},
  volume={87 4},
  pages={284-8}
}
The glycogen storage diseases comprise several inherited diseases caused by abnormalities of enzymes that regulate the synthesis or degradation of glycogen. In contrast to the classic hepatic glycogen storage diseases that are characterized by fasting hypoglycemia and hepatomegaly, the liver is not enlarged in GSD0. Patients with GSD0 typically have fasting ketotic hypoglycemia without prominent muscle symptoms. Most children are cognitively and developmentally normal. Short stature and… CONTINUE READING

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