Glycogen storage disease type IV (GBE1)

Stable Identifier
Homo sapiens
GSD IV, Andersen Disease
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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
PubMed ID Title Journal Year
15452297 Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

Mosca, F, van Diggelen, OP, Pasquini, E, Morandi, L, Vilarinho, L, Assereto, S, Traverso, M, Tonoli, E, van Noort, G, Introvini, P, Alegria, A, Zara, F, Bruno, C, Minetti, C, Bado, M, Donati, MA, Gimpelev, M, Giuffrè, B, Mascelli, S, DiMauro, S, Mora, M, Cassandrini, D

Neurology 2004
8613547 Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Wu, JY, Chen, Y-T, Kishnani, P, Bao, Y

J Clin Invest 1996
Name Identifier Synonyms
glycogen storage disease IV DOID:2750 deficiency of 1,4-alpha-glucan branching enzyme, brancher deficiency glycogenosis, Branching-transferase deficiency glycogenosis (disorder), Amylopectinosis, Glycogen storage disease, type IV (disorder)
Cross References
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