Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, infantile onset
Definition
Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.
Also known as alpha-1,4-glucosidase acid deficiency, 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, GSD due to acid maltase deficiency, infantile onset, GSD type 2, infantile onset, GSD type II, infantile onset, Pompe disease, infantile onset — per MONDO