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Glycogen storage disease due to glycogen branching enzyme deficiency

rare

Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.

Identifiers
MONDO:0009292 OMIM:232500Orphanet:367
Causal genes
GBE1
Part of
Disorder of glycogen metabolism
Also known as
amylopectinosis · Andersen disease · Andersen Disease (GSD IV) · Andersen's disease · GBE1 glycogen storage disease

Subtypes

All diseases Rare only
Disease Subtypes
Adult polyglucosan body disease
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

Rare disease

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