Glycogen storage disorder due to hepatic glycogen synthase deficiency
Glycogen storage disorder due to hepatic 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.
Also known as glycogen storage disease due to glycogen synthase deficiency of liver, glycogen storage disease due to hepatic glycogen synthase deficiency, glycogen storage disease due to liver glycogen synthase deficiency, glycogen storage disease type 0a, glycogen synthase deficiency, glycogenosis type 0a, GSD due to hepatic glycogen synthase deficiency, GSD type 0a, liver glycogen storage disease due to glycogen synthase deficiency — per MONDO