Other Newborn ScreeningNewborn ScreeningRUSP
Galactosemia
Classic galactosemia results from galactose-1-phosphate uridyltransferase deficiency, causing liver failure, cataracts, and sepsis with E. coli if galactose exposure continues. Lifelong dietary galactose restriction begins immediately after diagnosis. Newborn screening prevents symptomatic presentation in many infants.
- Prevalence
- 1 in 30,000-60,000
- 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.