P046: Expanding clinical insight Into N-acetylglutamate synthase (NAGS) deficiency: A case report of diagnosis, treatment and long-term management
Abstract
N-Acetylglutamate Synthase (NAGS) deficiency is an ultra-rare autosomal recessive urea cycle disorder, estimated to affect fewer than 1 in 2,000,000 individuals worldwide. Deficiency of N-acetylglutamate synthase disrupts the production of N-acetylglutamate, a cofactor required for carbamoyl phosphate synthetase I activity, thereby diminishing urea cycle efficiency and causing hyperammonemia. Due to its rarity, clinical awareness and published patient outcomes remain limited. This report describes early neonatal presentation, therapeutic management, and long-term outcome of an infant with NAGS deficiency due to a homozygous variant.
Fields of Study & Subjects
Metabolism and Genetic Disorders
Biochemical and Molecular Research
Amino Acid Enzymes and Metabolism
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103537–103537
- Publication date
- 1 January 2026
- Language
- EN