Amino Acid DisordersNewborn ScreeningRUSP
Maple Syrup Urine Disease
MSUD
MSUD impairs breakdown of the branched-chain amino acids leucine, isoleucine, and valine, producing characteristic maple-syrup-odor urine and risking metabolic crises with encephalopathy. Early dietary restriction of branched-chain amino acids and urgent management of intercurrent illness are lifesaving. Newborn screening enables treatment before irreversible injury occurs.
- Prevalence
- 1 in 185,000
- 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.