Catalog

Hyperammonaemia due to N-acetylglutamate synthetase deficiency

No MMS code

Link to WHO Definition

Hyperammonaemia due to N-acetylglutamate synthetase deficiency – http://id.who.int/icd/entity/812653109

N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia with variable clinical manifestations including vomiting, hyperactivity or lethargy, diarrhoea, poor feeding, seizures, hypotonia, delayed psychomotor development and respiratory distress. The hyperammonaemia is often severe and may lead to hyperammonaemic coma.