Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:366

Glycogen storage disease due to glycogen debranching enzyme deficiency

Also called 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

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive
Typical age of onset
Childhood, Infancy
Estimated prevalence
1-9 / 100 000 (United States)
Rarity class
1-9 / 100 000

ORPHA:366 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Full cheeks
  • Intellectual disability, mild
  • Hypoglycemia
  • Hypertriglyceridemia
  • Immunodeficiency
  • Short stature