Presentation and Treatment
The symptoms are visible within the first week of life and if not detected and diagnosed correctly immediately consequences are fatal.
Although there is currently no cure, treatment includes injections of structurally similar compound, N-Carbamoyl-L-glutamate, an analogue of N-Acetyl Glutamate. This analogue likewise activates CPS1. This treatment mitigates the intensity of the disorder.
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.
Early symptoms include lethargy, vomiting, and deep coma.
Read more about this topic: N-Acetylglutamate Synthase Deficiency
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