Pompe disease
Pronunciation: POM-pay
A glycogen storage disorder affecting cardiac and skeletal muscle due to acid alpha-glucosidase deficiency, causing massive cardiomegaly in infants.
Full Definition
Pompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of acid alpha-glucosidase (GAA), leading to glycogen accumulation in various tissues. The infantile form presents with severe hypertrophic cardiomyopathy and muscle weakness, typically fatal within the first year. Histologically, cardiomyocytes contain massive glycogen deposits that appear as clear vacuoles on routine staining and stain positively with PAS. The diagnosis is confirmed by enzyme assay or genetic testing. Late-onset forms may present primarily with skeletal muscle weakness.
Usage
Usage note: Also known as glycogen storage disease type II.
In Context
- "The endomyocardial biopsy showed characteristic glycogen-laden cardiomyocytes consistent with Pompe disease." — pediatric biopsy report
- "Massive cardiomegaly in this infant raised suspicion for Pompe disease, later confirmed by enzyme analysis." — pediatric autopsy report