/glycogen storage disorder due to hepatic glycogen synthase deficiency

glycogen storage disorder due to hepatic glycogen synthase deficiency

Rare Disease

MONDO:0009414

Also Known As

GSD due to hepatic glycogen synthase deficiencyGSD type 0aglycogen storage disease due to glycogen synthase deficiency of liverglycogen storage disease due to hepatic glycogen synthase deficiencyglycogen storage disease due to liver glycogen synthase deficiencyglycogen storage disease type 0aglycogen synthase deficiencyglycogenosis type 0aliver glycogen storage disease due to glycogen synthase deficiencyGSD 0AGSD0Aglycogen storage disease 0, liverglycogen storage disease type 0glycogen storage disease type 0, liverhepatic glycogen synthase deficiencyhypoglycemia with deficiency of glycogen synthetase in the liverliver GSD 0liver glycogen storage disease 0liver glycogen synthase deficiency

Definition

Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.