glycogen storage disease due to acid maltase deficiency, infantile onset
ORPHA: 308552
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with glycogen storage disease due to acid maltase deficiency, infantile onset, sourced from HPO and Orphanet clinical annotations.
Muscle weaknessFailure to thriveHypertrophic cardiomyopathyCardiomegalyLeft ventricular hypertrophyHepatomegalyElevated circulating creatine kinase concentrationFeeding difficulties in infancyFloppy infantOligosacchariduriaAbnormal circulating enzyme concentration or activityDelayed ability to standDelayed ability to sitIncreased circulating lactate dehydrogenase concentrationElevated circulating alanine aminotransferase concentrationLeft ventricular outflow tract obstructionMultifocal hyperintensity of cerebral white matter on MRIMacroglossiaTongue muscle weaknessFacial hypotoniaMotor delayAreflexiaRespiratory insufficiencyRespiratory distressRespiratory insufficiency due to muscle weaknessRespiratory failureGeneralized muscle weaknessProximal muscle weaknessRespiratory failure requiring assisted ventilationShortened PR intervalLow-output congestive heart failureRespiratory tract infectionHeart murmurHearing impairmentIntellectual disability
Classification & Codes
Orphanet Code
ORPHA:308552glycogen storage disease due to acid maltase deficiency, infantile onset
| Orphanet | ORPHA:308552 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO