Overview
- Definition: Pompe disease is a lysosomal storage disorder caused by defective glycogenolysis, leading to glycogen accumulation in lysosomes.
- Pathophysiology:
- Lysosome rupture leads to tissue damage.
- Primarily affects skeletal and cardiac muscles.
Clinical Presentation
- Infantile-Onset Pompe Disease (IOPD):
- Onset: First few months of life.
- Symptoms:
- Muscle weakness and hypotonia.
- Developmental delay.
- Feeding difficulties and failure to thrive.
- Macroglossia (enlarged tongue).
- Hypertrophic cardiomyopathy.