Organic Acid DisordersNewborn ScreeningRUSP
Propionic Acidemia
PA
Propionic acidemia blocks metabolism of certain amino acids and odd-chain fatty acids, causing organic acid accumulation and life-threatening acidosis. Episodes may be triggered by catabolic stress such as infection or fasting. Early dietary protein management, carnitine, and emergency protocols reduce morbidity and mortality.
- Prevalence
- 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.