Other Newborn ScreeningNewborn ScreeningRUSP
Pompe Disease
Pompe disease is glycogen storage disease type II caused by acid alpha-glucosidase deficiency, with infantile-onset disease featuring cardiomyopathy and hypotension rapidly progressing without treatment. Enzyme replacement therapy and newer modalities improve outcomes when initiated early. Newborn screening identifies patients before irreversible muscle damage.
- Prevalence
- Approximately 1 in 40,000
- Inheritance
- Autosomal recessive
- Screened at Birth
- Yes
- On RUSP
- Yes (Recommended Uniform Screening Panel)
About This Data
This disorder is part of the Cureledger rare disease data corpus. We are building privacy-preserving natural history datasets and advocacy tools for rare disease communities. Data is maintained by clinical advisors and the patient community.