The symptoms are visible within the first week of life and if not detected and diagnosed correctly immediately consequences are fatal.

The cause for this disorder is a single base deletion that led to frameshift mutation, and thus the error in gene's coding for this specific enzyme.

Deficiency in N-acetylglutamate synthase or a genetic mutation in the gene coding for the enzyme will lead to urea cycle failure in which ammonia is not converted to urea, but rather accumulated in blood leading to the condition called type I hyperammonemia.

Although there is currently no cure, treatment includes injections of structurally similar compound, carglumic acid, an analogue of N-acetyl glutamate.

If symptoms are detected early enough and the patient is injected with this compound, levels of severe mental retardation can be slightly lessened, but brain damage is irreversible.