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Glycogen storage disorder due to hepatic glycogen synthase deficiency
rareGlycogen 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.
- Identifiers
- MONDO:0009414 OMIM:240600Orphanet:2089
- Causal genes
- GYS2
- Part of
- Disorder of glycogen metabolism
- Also known as
- glycogen storage disease 0, liver · 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 0, liver
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