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GTR Home > Conditions/Phenotypes > Glycogen storage disease due to muscle beta-enolase deficiency

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

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. [from ORDO]

Available tests

42 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (42 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GSD13, MSE, ENO3
    Summary: enolase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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