ORPHA:365

Glycogen storage disease due to acid maltase deficiency

Also called Alpha-1,4-glucosidase acid deficiency, GSD due to acid maltase deficiency, GSD type 2, GSD type II, Glycogen storage disease type 2, Glycogen storage disease type II, Glycogenosis due to acid maltase deficiency, Glycogenosis type 2, Glycogenosis type II, Pompe disease

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal

Estimated prevalence

1-9 / 1 000 000 (Europe)

Rarity class

1-9 / 1 000 000

ORPHA:365 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.