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

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

Rare Disease

MONDO:0018485

Also Known As

Alpha-1,4-glucosidase acid deficiency, late onsetAlpha-1,4-glucosidase acid deficiency, late-onsetGSD due to acid maltase deficiency, late onsetGSD due to acid maltase deficiency, late-onsetGSD type 2, late onsetGSD type 2, late-onsetGSD type II, late onsetGSD type II, late-onsetLOPDPompe disease, late onsetPompe disease, late-onsetglycogen storage disease type 2, late onsetglycogen storage disease type 2, late-onsetglycogen storage disease type II, late onsetglycogen storage disease type II, late-onsetglycogenosis type 2, late onsetglycogenosis type 2, late-onsetglycogenosis type II, late onsetglycogenosis type II, late-onset

Definition

Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.

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Associated Genes

GAA ↗

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

Patient Advocacy Groups

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Acid Maltase Deficiency Association

Primary Focus

The Acid Maltase Deficiency Association (AMDA) was established in 1995 to assist in funding research and promote public awareness of Pompe disease. With over 500 members, AMDA publishes brochures, sponsors annual conferences, maintains a patient registry, and has funded over $4.9 million for research projects.

RDCP:PAG0000002USWebsite ↗

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External Resources

Related Diseases

glycogen storage disease due to acid maltase deficiency, infantile onset

MONDO:0017694

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