Professional
Technical
IVT
argininosuccinic aciduria
Pronunciation: ar-jin-in-oh-suk-SIN-ik
A urea cycle disorder detected through elevated citrulline levels in newborn screening amino acid analysis.
Full Definition
Argininosuccinic aciduria is caused by deficiency of argininosuccinate lyase, the fourth enzyme in the urea cycle. It results in accumulation of argininosuccinic acid and citrulline, which can cause hyperammonemia and neurological damage if untreated. Newborn screening detects the condition through elevated citrulline levels, though confirmation requires measurement of argininosuccinic acid in urine. Treatment involves protein restriction, nitrogen scavenging medications, and arginine supplementation.
Usage
Usage note: Avoid abbreviating to ASA in contexts where acetylsalicylic acid might be confused.
In Context
- "Citrulline elevation on newborn screening led to diagnosis of argininosuccinic aciduria." — case study
- "Argininosuccinic aciduria requires lifelong dietary management and monitoring." — treatment protocol
Also known as
ASA
argininosuccinate lyase deficiency
argininosuccinase deficiency
Don't confuse with
citrullinemia
argininemia