In the potentially fatal hyperammonaemia due to N-acetylglutamate synthase deficiency it will induce a rapid normalisation of plasma ammonia levels and indeed when treatment is started before any permanent brain damage, patients exhibited normal growth and psychomotor development. Structural analogue of N-acetylglutamate, the usual activator of carbamoyl phosphate synthetase, the first enzyme of the urea cycle.
- Treatment of hyperammonaemia due to N-acetylglutamate synthase deficiency.
- It has also been used out of license in methylmalonic aciduria and propionic aciduria
Oral usually starting dose 100 mg/kg, increasing if necessary to 250 mg/kg,
- Little experience as orphan drug
Cautions and Interactions
- Abdominal pain
- Tonsillitis, inflammation of the ear, nose and throat
Intoxication (unlikely at recommended doses) produces:
- Bronchial secretion