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Glycogen storage disease due to glycogen debranching enzyme deficiency

Disease definition

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

ORPHA:366

  • Synonym(s):
    • Amylo-1,6-glucosidase deficiency
    • Cori disease
    • Cori-Forbes disease
    • Forbes disease
    • GDE deficiency
    • GSD due to glycogen debranching enzyme deficiency
    • GSD type 3
    • GSDIII
    • Glycogen storage disease type 3
    • Glycogen storage disease type III
    • Glycogenosis due to glycogen debranching enzyme deficiency
    • Glycogenosis type 3
    • Glycogenosis type III
    • Limit dextrinosis
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E74.0
  • OMIM: 232400
  • UMLS: C0017922  C2936915
  • MeSH: -
  • GARD: 9442
  • MedDRA: 10053250

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