Amino Acid DisordersNewborn ScreeningRUSP
Citrullinemia Type I
CIT-I
Citrullinemia type I is a urea cycle disorder caused by argininosuccinate synthetase deficiency, leading to hyperammonemia that can present catastrophically in infancy or later in life. Acute hyperammonemia is a medical emergency requiring specialized metabolic treatment. Screening facilitates presymptomatic diet and medication strategies to reduce ammonia load.
- Prevalence
- 1 in 57,000
- 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.