Definition
Pompe disease is a lysosomal storage disease characterized by progressive myopathy and cardiomyopathy, resulting from acid alpha-glucosidase enzyme deficiency.
Symptoms
- Hypotonia
- Cardiomegaly
- Respiratory Failure
- Progressive muscle weakness
Reasons
GAA gene mutation.
Diagnosis
Enzyme activity, genetic testing.
Treatment
Enzyme replacement therapy.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of respiratory failure, emergency services should be consulted.
This page is for general information purposes only.