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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.
Features include: Seizure, Increased circulating lactate concentration, Neonatal hypoglycemia, and Postprandial hyperglycemia and 2 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 1 | Seizure |
Lab test results | 1 | Increased circulating lactate concentration |
Pregnancy and birth | 1 | Neonatal hypoglycemia |
GYS2 encodes glycogen synthase 2 (703 aa). Glycogen synthase participates in the glycogen biosynthetic process along with glycogenin and glycogen branching enzyme. Highest expression in Liver (45.9 TPM) and Esophagus Mucosa (5.5 TPM).
Glycogen storage disorder due to hepatic glycogen synthase deficiency is caused by mutations in the GYS2 gene on chromosome 12.
The GYS2 protein participates in GYS2 catalyzes the polyglucosylation of oligoGlc-GYG2 and GYS2 catalyzes the incorporation of phosphoglucose into glycogen-GYG2 pathways.
GYS2 is classified as a druggable target (Enzyme category) with score 26.1.
Genetic testing for GYS2 is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
8 publications have been identified in PubMed for glycogen storage disorder due to hepatic glycogen synthase deficiency. Research spans Review / Meta-Analysis (38%), Basic Science / Preclinical (38%), and Case Report / Case Series (13%).
John TA (2026). [PMID: 29083788](https://pubmed.ncbi.nlm.nih.gov/29083788/). *Unknown Journal*. [Review / Meta-Analysis]
Ying G (2026). [PMID: 41423160](https://pubmed.ncbi.nlm.nih.gov/41423160/). *J Ethnopharmacol*. [Basic Science / Preclinical]
Yue X (2025). [PMID: 41238564](https://pubmed.ncbi.nlm.nih.gov/41238564/). *Cell Death Dis*. [Basic Science / Preclinical]
Weiss L (2025). [PMID: 40268518](https://pubmed.ncbi.nlm.nih.gov/40268518/). *Clin Transl Med*. [Gene Therapy / Novel Therapeutics]
Tao T (2025). [PMID: 41231251](https://pubmed.ncbi.nlm.nih.gov/41231251/). *Cell Mol Life Sci*. [Basic Science / Preclinical]
Fu H (2024). [PMID: 39121286](https://pubmed.ncbi.nlm.nih.gov/39121286/). *Medicine (Baltimore)*. [Case Report / Case Series]
Colpaert M (2024). [PMID: 39277505](https://pubmed.ncbi.nlm.nih.gov/39277505/). *Neurotherapeutics*. [Review / Meta-Analysis]
Mishra K (2024). [PMID: 39334863](https://pubmed.ncbi.nlm.nih.gov/39334863/). *Biomolecules*. [Review / Meta-Analysis]
Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 5:35 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center