Glycogen storage disease due to liver glycogen synthase deficiency (Q100829): Difference between revisions

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Latest revision as of 17:36, 16 August 2026

Hepatic glycogen synthase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterised by fasting hypoglycaemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. Patients present with morning fatigue and fasting hypoglycaemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed.

Language	Label	Description	Also known as
default for all languages	ID_1927530758
English	Glycogen storage disease due to liver glycogen synthase deficiency	Hepatic glycogen synthase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterised by fasting hypoglycaemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. Patients present with morning fatigue and fasting hypoglycaemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed.