glycogen storage disorder due to hepatic glycogen synthase deficiency
Findings
No curated finding names glycogen storage disorder due to hepatic glycogen synthase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009414), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- GlycosuriaHPOHP:0003076
- Frequent (30% to 79% of cases)
- IrritabilityHPOHP:0000737
- Frequent (30% to 79% of cases)
- KetonuriaHPOHP:0002919
- Frequent (30% to 79% of cases)
- KetosisHPOHP:0001946
- Frequent (30% to 79% of cases)
- Ketotic hypoglycemiaHPOHP:0012734
- Frequent (30% to 79% of cases)
- Postprandial hyperglycemiaHPOHP:0011998
- Frequent (30% to 79% of cases)
- Abnormality of the gastrointestinal tractHPO
Show the remaining 2
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- Short statureHPOHP:0004322
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GYS2HGNC:4707
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
9 names
Resolves to: glycogen storage disorder due to hepatic glycogen synthase deficiency
- Also called
- glycogen 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 0aGSD due to hepatic glycogen synthase deficiencyGSD type 0aliver glycogen storage disease due to glycogen synthase deficiency