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Glycogen storage disease due to muscle beta-enolase deficiency

rare

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.

Identifiers
MONDO:0013046 OMIM:612932Orphanet:99849
Causal genes
ENO3
Part of
Disorder of glycogen metabolismDisorder of glycolysis
Also known as
glycogen storage disease 13 · glycogen storage disease type 13 · glycogen storage disease XIII · glycogenosis due to muscle beta-enolase deficiency · glycogenosis type 13

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