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Glycogen storage disease due to glycogen branching enzyme deficiency
rareGlycogen 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
Disease
- Adult polyglucosan body disease MONDO:0009897
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form MONDO:0017701
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form MONDO:0017699
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form MONDO:0017700
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form MONDO:0017698
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form MONDO:0017697
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form MONDO:0017696
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form MONDO:0017695
Projects
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