glycogen storage disease due to acid maltase deficiency, late-onset
Findings
No curated finding names glycogen storage disease due to acid maltase deficiency, late-onset yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0018485), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Difficulty climbing stairsHPOHP:0003551
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 5 of 5 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 5 of 5 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 8 of 8 reported patients
- FatigueHPOHP:0012378
- 3 of 3 reported patients
- Generalized muscle weakness
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GAAHGNC:4065
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
19 names
Resolves to: glycogen storage disease due to acid maltase deficiency, late-onset
- Also called
- Alpha-1,4-glucosidase acid deficiency, late onsetAlpha-1,4-glucosidase acid deficiency, 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-onsetGSD due to acid maltase deficiency, late onsetGSD due to acid maltase deficiency, late-onsetGSD type 2, late onsetGSD type 2, late-onset