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glycogen storage disease due to hepatic glycogen synthase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood, high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia.
Mondo Term and Equivalent IDs
MONDO:0009414:  glycogen storage disease due to hepatic glycogen synthase deficiency
GARD:0002513: 
GARD:0002889: 
MESH:C565485: 
Orphanet:2089: 
SCTID:237964009: 
UMLS:C0342748: 
UMLS:C1855861: