Professional
Technical
IVT
citrullinemia
Pronunciation: sit-rul-in-EE-mee-ah
A urea cycle disorder characterized by elevated citrulline levels, detected through amino acid analysis in newborn screening.
Full Definition
Citrullinemia encompasses two distinct disorders: Type I (classical) caused by argininosuccinate synthetase deficiency, and Type II caused by citrin deficiency. Both result in elevated plasma citrulline levels detectable through newborn screening. Type I presents with neonatal hyperammonemia and requires immediate intervention with protein restriction and nitrogen scavenging. Type II has variable presentation and may be asymptomatic in infancy despite positive screening results.
Usage
Usage note: Specify type I or II when clinically relevant; note different management approaches.
In Context
- "The elevated citrulline level was consistent with citrullinemia type I." — diagnostic report
- "Citrullinemia type II may not require immediate intervention despite positive screening." — clinical protocol
Also known as
argininosuccinate synthetase deficiency
Don't confuse with
argininosuccinic aciduria
argininemia