Argininemia
| Argininemia | |
|---|---|
| Other names | Arginase deficiency |
| Arginine | |
| Specialty | Neurology, medical genetics, endocrinology |
| Symptoms | Lethargy, Dehydration |
| Causes | Mutations in the ARG1 gene |
| Diagnostic method | Urinary orotic acid concentration |
| Treatment | Limited protein intake, sodium benzoate |
Argininemia is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high; the nervous system is especially sensitive to the effects of excess ammonia.