Hyperammonemia due to N-Acetylglutamate synthase (NAGS) deficiency is a metabolic disturbance characterised by an excess amount of ammonia in the blood. Children with this severe urea cycle disorders typically show symptoms directly after the first 24 hours of life. Symptoms may include vomiting, lethargy, seizures, respiratory distress and coma. The basic tests to make the diagnosis are the measurement of blood ammonia, plasma amino acids and urine organic acids concentrations. Severe consequences can be avoided through direct medication in combination with a strict diet.
Synonyms: Type I Hyperammonemia, Hyperammonemia due to N-Acetylglutamate synthase deficiency; N-Acetylglutamate Synthetase Deficiency