ARGINASE-1

The Arginase 1 test detects deficiency of the arginase enzyme, which plays a role in the urea cycle — the body’s system for removing excess nitrogen. Deficiency in this enzyme leads to argininemia, a rare inherited metabolic disorder.

It is used for the diagnosis of urea cycle disorders, especially in infants or children presenting with symptoms like developmental delay, spasticity, seizures, and elevated blood ammonia levels. Early diagnosis is crucial to prevent neurological damage.

A blood sample is analyzed using molecular genetic techniques or enzyme activity assays to assess the function or presence of mutations in the ARG1 gene.

There are no special preparations unless specified by your physician. However, fasting ammonia levels may also be tested simultaneously for comprehensive evaluation.

Results may take between 10–14 days depending on the method used. If a deficiency is confirmed, metabolic therapy and dietary management are initiated promptly.