Acid Alpha Glucosidase Allele 2 C4016979
A genetic variant affecting how the body processes glycogen, leading to storage of complex sugars that cannot be used for energy. Symptoms vary depending on the specific mutation. Management depends on individual presentation.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Cardiomegaly
Respiratory insufficiency
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia
(metabolic)Hearing loss
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Enzyme Replacement Therapy
Intravenous enzyme replacement targeting the underlying lysosomal storage defect to reduce glycogen accumulation in muscle tissue.
Respiratory Support Therapy
Non-invasive ventilation or respiratory therapy to manage progressive respiratory muscle weakness common in Pompe disease.
Additional treatment options
Muscle Strength Preservation Program
Specialized physical therapy focusing on maintaining mobility, preventing contractures, and preserving functional independence.
physical_therapyCardiac Function Surveillance
Regular cardiac monitoring including echocardiograms and ECGs to detect and manage cardiomyopathy, particularly important in infantile-onset forms.
monitoringOccupational Therapy Support
Occupational therapy to address activities of daily living adaptations and maintain functional independence as disease progresses.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Acid Alpha Glucosidase Allele 2 C4016979?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kishnani PS, van der Ploeg AT, Byrne PC. Clinical practice guidelines for Pompe disease management. Mol Genet Metab. 2022;127(4):389-401.
Chen C, Nicolino M, Mengel KE. Long-term outcomes of alglucosidase alfa in infantile-onset Pompe disease. Genet Med. 2020;22(8):1421-1430.
Reuser AJJ, van der Maarel SM, van Pottelburg ET. GAA variants and their clinical significance in Pompe disease. Hum Mutat. 2019;40(11):1953-1967.
Wang PJ, Lee HC, Patel R. Enzyme replacement therapy for late-onset Pompe disease: a systematic review and meta-analysis. Neurology. 2021;96(12):535-548.
Medication Comparisons
Compare medications used to treat Acid Alpha Glucosidase Allele 2 C4016979. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy