Catalog

Glycogen storage disease due to liver glycogen synthase deficiency

No MMS code

Link to WHO Definition

Glycogen storage disease due to liver glycogen synthase deficiency – http://id.who.int/icd/entity/1927530758

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.