glycogen storage disease due to acid maltase deficiency, infantile onset
Findings
No curated finding names glycogen storage disease due to acid maltase deficiency, infantile 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, 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.
Definition from the Mondo Disease Ontology (MONDO:0017694), read 2026-09-29. CC BY 4.0.
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
52 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
- Difficulty descending stairsHPOHP:0033235
- 1 of 1 reported patient
- DyspneaHPOHP:0002094
- 1 of 1 reported patient
- Elevated circulating CK-MB concentrationHPOHP:0032232
- 1 of 1 reported patient
- Elevated circulating NT-proBNP concentrationHPOHP:0031185
- 1 of 1 reported patient
- Exercise intoleranceHPOHP:0003546
- 1 of 1 reported patient
- Gait disturbanceHPO
Show the remaining 40
- Nonimmune hydrops fetalisHPOHP:0001790
- 11 of 11 reported patients
- Pleural effusionHPOHP:0002202
- 1 of 1 reported patient
- Right axis deviationHPOHP:0033567
- 1 of 1 reported patient
- Sinus tachycardiaHPOHP:0011703
- 1 of 1 reported patient
- Subarachnoid hemorrhageHPOHP:0002138
- 1 of 1 reported patient
- Urinary incontinenceHPOHP:0000020
- 1 of 1 reported patient
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
10 names
Resolves to: glycogen storage disease due to acid maltase deficiency, infantile onset
- Also called
- alpha-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 onsetGSD due to acid maltase deficiency, infantile onsetGSD type 2, infantile onsetGSD type II, infantile onsetPompe disease, infantile onset