glycogen storage disease II
Findings
No curated finding names glycogen storage disease II 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 (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.
Definition from the Mondo Disease Ontology (MONDO:0009290), read 2026-09-29. CC BY 4.0.
Features
72 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.
- Decreased circulating acid maltase activityHPOHP:0034932
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- OligosacchariduriaHPOHP:0010471
- Very frequent (80% to 99% of cases)
- Progressive proximal muscle weaknessHPOHP:0009073
- Very frequent (80% to 99% of cases)
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- CamptocormiaHPOHP:0100595
- Frequent (30% to 79% of cases)
Show the remaining 60
- Exercise intoleranceHPOHP:0003546
- Frequent (30% to 79% of cases)
- Exertional dyspneaHPOHP:0002875
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
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
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
14 names
Resolves to: glycogen storage disease II
- Also called
- acid maltase deficiencyAlpha-1,4-glucosidase acid deficiencyGAA glycogen storage diseasegeneralised glycogenosisglycogen storage disease caused by mutation in GAAglycogen storage disease type 2glycogen storage disease type IIglycogenosis due to acid maltase deficiencyglycogenosis type 2glycogenosis type IIGSD due to acid maltase deficiencyGSD type 2GSD type IIPompe Disease