Although there is currently no cure, treatment includes injections of structurally similar compound, Carglumic acid, 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. Also: hemodialysis for emergent hyperammonemic crisis, Na benzoate, Na phenylacetate, Na phenylbutyrate, low-protein diet supplemented with essential amino acid mixture and arginine, citrulline, experimental attempts at gene therapy, liver transplantation (which is curative), and also N-carbamylglutamate supplementation. Early symptoms include lethargy, vomiting, and deep coma.
N-Acetylglutamate synthase deficiency
Creatine transporter defect
Glutathione synthetase deficiency
Cerebral creatine deficiency
Mitochondrial complex II deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine palmitoyltransferase I deficiency
Pyruvate kinase deficiency