ORPHA:308552

Glycogen storage disease due to acid maltase deficiency, infantile onset

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

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Antenatal, Infancy, Neonatal

Estimated prevalence

Unknown (Europe)

Rarity class

Unknown

ORPHA:308552 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.