glycogen storage disease 13

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glycogen storage disease 132016-11-25T23:01:27+00:00

glycogen storage disease 13

METABOLISM

Definition An inherited metabolic disorder (OMIM: 612932) characterised by exercise-induced myalgia, generalised muscle weakness and fatiguability.

Lab Increased serum creatine kinase, decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles seen by electron microscopy.

Molecular pathology Defects of ENO3, which encodes one of the 3 enolase isoenzymes found in mammals, cause glycogen storage disease 13. 

Synonyms Enolase 3 deficiency, enolase-beta deficiency, GSD XIII 

References http://www.uniprot.org/uniprot/P13929

http://www.omim.org/entry/612932  

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