N-Acetylglutamate Synthase Deficiency (Hyperammonemia - 3)
Pathogenesis (Urea Cycle Disorder)
- N-Acetylglutamate deficiency leads to insufficient urea production with toxic accumulation of ammonia (nitrogen)
Clinical, Severe Form
- Onset: Birth
- Neurological manifestations: Failure to Thrive.
Clinical, Mild Form
- Onset: Adulthood
- Neurological manifestations: Ammonia toxicity (confusion, decreased arousal, ataxia) with high-protein foods.
Genetics
- NAGS gene mutation
- Autosomal recessive
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov