Glycogen storage disease due to muscle beta-enolase deficiency
- Synonyms
- Enolase 3 deficiency; Enolase-beta deficiency; GSD XIII; Glycogen Storage Disease Type XIII; Glycogen storage disease type 13
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (44 available)
Biochemical Genetics Tests
Genes See tests for all associated and related genes
Also known as: GSD13, MSE, ENO3
Summary: enolase 3
Clinical features
Help- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased muscle glycogen content
Increased muscle glycogen content
- MedGen UID: 409660
- Concept ID: C1968729
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced muscle enolase activity
Reduced muscle enolase activity
- MedGen UID: 1841611
- Concept ID: C5826543
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Constitutional symptom
- Exercise intolerance
Exercise intolerance
- MedGen UID: 603270
- Concept ID: C0424551
- Finding: Finding
Constitutional symptom
- Myalgia
Myalgia
- MedGen UID: 68541
- Concept ID: C0231528
- Finding: Sign or Symptom
Constitutional symptom
- Exercise intolerance
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