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