SLC2A2 function has not been fully characterized.

Glycogen storage disease due to GLUT2 deficiency is associated with mutations in the SLC2A2 gene on chromosome 3.

Genetic testing for SLC2A2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for glycogen storage disease due to GLUT2 deficiency has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 18 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions and medical devices. Research is primarily sponsored by academic and government institutions.

299 publications have been identified in PubMed for glycogen storage disease due to GLUT2 deficiency. Kisho has analyzed 87 by research type. Research spans Review / Meta-Analysis (43%), Basic Science / Preclinical (17%), and Case Report / Case Series (14%).

Recent Publications

• Moore CA (2026). [PMID: 29083589](https://pubmed.ncbi.nlm.nih.gov/29083589/). *Unknown Journal*. [Epidemiology / Natural History]

• Mejía-Barrera MA (2026). [PMID: 41816542](https://pubmed.ncbi.nlm.nih.gov/41816542/). *Front Aging*. [Review / Meta-Analysis]

• Krishnamurthy S (2026). [PMID: 41741919](https://pubmed.ncbi.nlm.nih.gov/41741919/). *Indian J Pediatr*. [Review / Meta-Analysis]

• Chang HE (2026). [PMID: 40369127](https://pubmed.ncbi.nlm.nih.gov/40369127/). *Pediatr Nephrol*. [Review / Meta-Analysis]

• Bruneau H (2026). [PMID: 42138629](https://pubmed.ncbi.nlm.nih.gov/42138629/). *Arch Endocrinol Metab*. [Review / Meta-Analysis]

• Quarello P (2026). [PMID: 41247002](https://pubmed.ncbi.nlm.nih.gov/41247002/). *Am J Hematol*. [Diagnostic / Biomarker]

• Bonanni L (2026). [PMID: 41495437](https://pubmed.ncbi.nlm.nih.gov/41495437/). *Commun Biol*. [Clinical Trial Publication]

• Shreenath AP (2026). [PMID: 30020636](https://pubmed.ncbi.nlm.nih.gov/30020636/). *Unknown Journal*. [Epidemiology / Natural History]

• Samanta A (2025). [PMID: 40881090](https://pubmed.ncbi.nlm.nih.gov/40881090/). *World J Clin Pediatr*. [Other]

• Veenstra CM (2025). [PMID: 40020204](https://pubmed.ncbi.nlm.nih.gov/40020204/). *J Clin Oncol*. [Epidemiology / Natural History]