Cause
Glutamate and acetyl-CoA during urea cycleN-acetylglutamate synthase(N-acetylglutamatesynthetase; NAGAS) produces N-acetylglutamate, which causes congenital metabolic abnormalities in blood ammonia elevation due to the lack of NAGAS during this reaction. At the same time, due to the low synthesis ability of carbamoyl phosphate, the intermediate metabolites of pyrimidine and the like do not change or decrease.
Genetic form
Autosomal recessive inheritance.
Clinical features
In the neonatal period, there are symptoms of non-specific hyperammonemia such as irritability, vomiting, and disturbance of consciousness. There are also reports of childhood onset, and the onset of progressive neurological symptoms appears in children with childhood onset.
Urine screening
Increased glutamine in the urine, without the increase of citrulline and orotic acid.
diagnosis
Combined with clinical manifestations and increased concentrations of glutamine in the blood and urine, without the presence of increased citrulline and orotic acid, the disease can be highly suspected, but must be associated with carbamyl phosphate synthase 1 deficiency (post Syria) for differential diagnosis, the diagnosis needs to be enzymatically examined.
treatment
The main restriction protein diet, given a low protein high calorie diet, can also be given sodium benzoate treatment.
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