Arginosuccinic aciduria

Argininosuccinic aciduria is a rare, inherited metabolic disorder characterized by a deficiency in the enzyme argininosuccinate lyase, leading to the accumulation of argininosuccinic acid in the blood and urine. This condition is part of the urea cycle disorders, which impair the body's ability to remove ammonia, a toxic waste product of protein metabolism. Untreated, it can cause severe neurological damage, developmental delays, and liver dysfunction.

This code is used when documentation confirms a diagnosis of argininosuccinic aciduria, typically identified through newborn screening, elevated argininosuccinic acid levels in plasma and urine, and/or genetic testing. It applies to patients presenting with symptoms such as lethargy, poor feeding, seizures, developmental delay, or hyperammonemia, where this specific urea cycle disorder has been definitively diagnosed.

• Ensure documentation specifies "argininosuccinic aciduria" to differentiate from other urea cycle disorders.
• Consider co-reporting codes for associated manifestations, such as intellectual disabilities (F70-F79) or seizures (G40.-), if present and documented.
• Do not confuse with other urea cycle disorders like ornithine transcarbamylase deficiency (E72.21) or citrullinemia (E72.23).