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Glycogen storage disease due to glycogen branching enzyme deficiency

MONDO:0009292

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.

Also known as: Andersen Disease (GSD IV), Andersen disease, Andersen's disease, GBE1 glycogen storage disease, GSD due to glycogen branching enzyme deficiency, GSD type 4, GSD type IV, amylopectinosis

2 clinical trials for this condition and its sub-types.

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Sub-types

Adult polyglucosan body disease (1) Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form (0) Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form (0) Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form (0) Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form (0) Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form (0) Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form (0) Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Disorder of glycogen metabolism (14) Human disease (14) Carbohydrate metabolism disease (3) Disease of genetic or genomic mechanism (2) Inborn carbohydrate metabolic disorder (2) Inborn disorder of energy metabolism (1)
Trials to join now! 2
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