DIAGNOSIS
The presence of arginase deficiency is frequently hypothesized based on the indications and symptoms of the individual. Blood tests to detect arginine and ammonia amounts will then be requested.
Afterward, when genetic testing reveals disease-causing mutations in every copy of the ARG1 gene, or a blood test reveals decreased arginase enzyme activity in red blood cells, the diagnosis of arginase deficiency is established.
TREATMENT
ARG deficiency is treated by lowering plasma ammonia and arginine levels, avoiding the formation of excess ammonia, and limiting the quantity of nitrogen in the diet. Dietary limitations in people with arginase insufficiency are designed to keep arginine and protein consumption to a minimum. For instance, kids with arginase insufficiency are put on a low-protein, arginine-restricted diet with necessary amino acids as a supplement.
Furthermore, intravenous (IV) fluids may be administered to patients with arginase deficiency who suffer bouts of hyperammonemia. Individuals having arginase deficiency are usually admitted to the hospital during an episode of acute hyperammonemia.
There are also therapies used to quickly lower the blood ammonia levels and avoid brain injury. These therapies may involve:
- Dialysis
- Nitrogen-scavenging medicines
- Intravenous (IV) fluids
- Other therapies