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Glycogen storage disease type IV (GBE1)

Stable Identifier
Homo sapiens
GSD IV, Andersen Disease
Locations in the PathwayBrowser

Normally, cytosolic glycogen branching enzyme (GBE1) associated with glycogen granules transfers terminal alpha(1,4) glucose blocks to form alpha(1,6) branches on growing glycogen molecules of both liver and muscle types. In the absence of GBE1 activity, abnormal amylopectin-like glycogen with longer alpha(1,4) chains and fewer branch points forms in all tissues where glycogen is normally found. Presentation of the disease is clinically heterogeneous: missense and nonsense mutations associated with little or no enzyme activity can lead to progressive liver disease or neuromuscuolar disease (Bao et al. 1996; Bruno et al. 2004).

Literature References
Participant Of
Name Identifier Synonyms
glycogen storage disease IV 2750 deficiency of 1,4-alpha-glucan branching enzyme, brancher deficiency glycogenosis, Branching-transferase deficiency glycogenosis (disorder), Amylopectinosis, Glycogen storage disease, type IV (disorder)