/glycogen storage disease due to acid maltase deficiency, infantile onset

glycogen storage disease due to acid maltase deficiency, infantile onset

Rare Disease

MONDO:0017694

Also Known As

GSD due to acid maltase deficiency, infantile onsetGSD type 2, infantile onsetGSD type II, infantile onsetPompe disease, infantile onsetalpha-1,4-glucosidase acid deficiency, infantile onsetglycogen storage disease type 2, infantile onsetglycogen storage disease type II, infantile onsetglycogenosis due to acid maltase deficiency, infantile onsetglycogenosis type 2, infantile onsetglycogenosis type II, 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.

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Associated Genes

GAA ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

Related Diseases

glycogen storage disease due to acid maltase deficiency, late-onset

MONDO:0018485

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