Argininemia

This code represents argininemia, a rare, inherited metabolic disorder characterized by a deficiency of the enzyme arginase. This deficiency leads to the accumulation of arginine and other nitrogenous compounds in the blood and urine, primarily affecting the urea cycle. Clinical manifestations can include developmental delay, intellectual disability, seizures, spasticity, and hyperammonemia.

Use this code for patients diagnosed with argininemia based on biochemical testing (e.g., elevated plasma arginine, abnormal urine organic acids) and/or genetic testing confirming a pathogenic variant in the ARG1 gene. It is appropriate for both initial diagnosis and ongoing management of this chronic condition. Documentation should clearly state the diagnosis of argininemia.

• Do not confuse with other urea cycle disorders; ensure documentation specifically identifies argininemia.
• Consider sequencing this code as a primary diagnosis when it is the reason for the encounter, especially for monitoring or treatment.
• Look for supporting documentation such as laboratory results (plasma amino acids, ammonia levels) and genetic test reports.