Amino Acid DisordersNewborn ScreeningRUSP
Phenylketonuria
PKU
PKU is an inborn error of phenylalanine metabolism that leads to toxic accumulation if untreated, causing intellectual disability and neurological harm. Newborn screening identifies affected infants so a low-phenylalanine diet and, in some cases, adjunct therapies can begin promptly. Lifelong metabolic monitoring remains important for optimal outcomes.
- Prevalence
- 1 in 10,000-15,000
- 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.