Organic Acid DisordersNewborn ScreeningRUSP
Isovaleric Acidemia
IVA
Isovaleric acidemia impairs leucine catabolism, producing isovaleric acid that can cause severe acidosis and a characteristic “sweaty feet” odor during crises. Glycine and carnitine are mainstays of chronic therapy alongside protein restriction. Screening identifies asymptomatic newborns before their first metabolic emergency.
- Prevalence
- 1 in 250,000
- 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.