Other Newborn ScreeningNewborn ScreeningRUSP
Mucopolysaccharidosis Type I
MPS I
MPS I spans Hurler, Hurler-Scheie, and Scheie phenotypes of alpha-L-iduronidase deficiency, causing skeletal dysplasia, organomegaly, corneal clouding, and neurocognitive decline in severe forms. Hematopoietic transplant and enzyme replacement are options depending on phenotype and timing. Newborn screening aims to treat before irreversible disease manifestations.
- Prevalence
- Approximately 1 in 100,000
- 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.