glycogen storage disease 13
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