ENO3 encodes enolase 3 (434 aa). Enolase that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate in glycolysis and the reverse reaction in gluconeogenesis. Highest expression in Muscle Skeletal (1,974 TPM) and Heart Left Ventricle (171.2 TPM).

Glycogen storage disease due to muscle beta-enolase deficiency is associated with mutations in the ENO3 gene on chromosome 17.

ENO3 is classified as a druggable target (Enzyme category) with score 2.4.

Genetic testing for ENO3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for glycogen storage disease due to muscle beta-enolase deficiency has been reported in the published literature.

Phenotype severity distribution: 1 always present feature.

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

No clinical trials have been registered for glycogen storage disease due to muscle beta-enolase deficiency.

60 publications have been identified in PubMed for glycogen storage disease due to muscle beta-enolase deficiency. Research spans Case Report / Case Series (25%), Clinical Trial Publication (18%), and Basic Science / Preclinical (18%).

Recent Publications

• Costa MP (2026). [PMID: 41797620](https://pubmed.ncbi.nlm.nih.gov/41797620/). *Am J Med Genet A*. [Epidemiology / Natural History]

• Turner-Bowker DM (2026). [PMID: 41694477](https://pubmed.ncbi.nlm.nih.gov/41694477/). *J Health Econ Outcomes Res*. [Gene Therapy / Novel Therapeutics]

• Boueri M (2026). [PMID: 41719911](https://pubmed.ncbi.nlm.nih.gov/41719911/). *Mol Genet Metab*. [Review / Meta-Analysis]

• Regmi N (2026). [PMID: 41483684](https://pubmed.ncbi.nlm.nih.gov/41483684/). *EBioMedicine*. [Diagnostic / Biomarker]

• Erdem Karapınar F (2026). [PMID: 41453391](https://pubmed.ncbi.nlm.nih.gov/41453391/). *Neuropediatrics*. [Basic Science / Preclinical]

• Xiao Q (2026). [PMID: 40908831](https://pubmed.ncbi.nlm.nih.gov/40908831/). *J Clin Ultrasound*. [Case Report / Case Series]

• Beha GH (2026). [PMID: 41093637](https://pubmed.ncbi.nlm.nih.gov/41093637/). *J Neurol Neurosurg Psychiatry*. [Epidemiology / Natural History]

• Sun B (2026). [PMID: 41485391](https://pubmed.ncbi.nlm.nih.gov/41485391/). *Mol Genet Metab*. [Basic Science / Preclinical]

• Corbett M (2026). [PMID: 41696977](https://pubmed.ncbi.nlm.nih.gov/41696977/). *Health Technol Assess*. [Review / Meta-Analysis]

• Faraguna MC (2026). [PMID: 41576647](https://pubmed.ncbi.nlm.nih.gov/41576647/). *Curr Opin Immunol*. [Review / Meta-Analysis]