Glycogen storage disease due to glycogen branching enzyme deficiency

Orpha code: 367OMIM code: 263570

Definition

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 (see these terms).

Disease data
Classification

Disease

Synonyms
Amylopektynoza
Amylopectinosis
Choroba Andersen
Choroba spichrzania glikogenu typu 4
Glikogenoza spowodowana niedoborem enzymu rozgałęziającego
Glikogenoza typu 4
GSD spowodowana niedoborem enzymu rozgałęziającego
GSD typu 4
Andersen disease
GSD due to glycogen branching enzyme deficiency
GSD type 4
GSD type IV
Glycogen storage disease type 4
Glycogen storage disease type IV
Glycogenosis due to glycogen branching enzyme deficiency
Glycogenosis type 4
Glycogenosis type IV
ORPHA code
367
OMIM code
263570
ICD10 code
E74.0
ICD11 code
5C51.3

No additional description.

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