glycogen storage disease due to muscle beta-enolase deficiency
Findings
No curated finding names glycogen storage disease due to muscle beta-enolase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.
Definition from the Mondo Disease Ontology (MONDO:0013046), read 2026-09-29. CC BY 4.0.
Features
7 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.
- Reduced muscle enolase activityHPOHP:0034633
- 1 of 1 reported patient
- Obligate (100% of cases)
- Elevated creatine kinase after exerciseHPOHP:0008331
- Very frequent (80% to 99% of cases)
- Exercise intoleranceHPOHP:0003546
- Very frequent (80% to 99% of cases)
- Exercise-induced rhabdomyolysisHPOHP:0009045
- Very frequent (80% to 99% of cases)
- Increased muscle glycogen contentHPOHP:0009051
- Frequent (30% to 79% of cases)
- MyalgiaHPOHP:0003326
- Frequent (30% to 79% of cases)
- Exercise-induced myoglobinuriaHPOHP:0008305
- 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.
- ENO3HGNC:3354
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: glycogen storage disease due to muscle beta-enolase deficiency
- Also called
- glycogen storage disease type 13glycogenosis due to muscle beta-enolase deficiencyglycogenosis type 13GSD due to muscle beta-enolase deficiencyGSDXIIImuscle enolase deficiencymuscular enolase deficiency