[PDF] Hyperammonaemia : urea cycle disorders NAGS deficiency (N-Acetyl glutamate synthase deficiency)

British Inherited Metabolic Disease Group
British Inherited Metabolic Disease Group (BIMDG)
Publication date:
09 September 2016


The urea cycle converts ammonia into urea and defects of all the steps are now well documented. All cause hyperammonaemia, albeit to varying degrees, is associated with other metabolic disturbances. All these disorders may cause severe neurological complications and treatment of acute illness is urgent. The disorder covered here is N-Acetyl glutamate synthase (NAGS) deficiency

Treatment is aimed at reducing the production of ammonia so patients are treated with N-carbamyl glutamate and sometimes a low protein diet and medicines that promote the removal of nitrogen by alternative pathways.

Sections of this guideline include: background, admission, initial plan and management in hospital, management - oral/intravenous, progress, re-introduction of enteral feeds, going home.