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Glycogen storage disease due to glycogen branching enzyme deficiency

Disease 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).

ORPHA:367

  • Synonym(s):
    • Amylopectinosis
    • 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
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal, Infancy, Childhood, Adolescent, Adult
  • ICD-10: E74.0
  • OMIM: 232500  263570
  • UMLS: C0017923  C1563715
  • MeSH: -
  • GARD: 2520
  • MedDRA: 10053249

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