Hyperammonemia due to N-acetylglutamate synthase deficiency

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Hyperammonemia due to N-acetylglutamate synthase deficiency

Synonyms: NAGS deficiency

A rare disorder of urea cycle metabolism causing a deficit of ammonia detoxification and arginine synthesis and characterized by hyperammonemia of variable severity. Manifestations range from neonatal presentation of poor feeding vomiting lethargy tachypnea convulsions and coma to adult-onset headaches hazy gastrointestinal symptoms seizures behavioral/psychiatric problems confusion and lethargy.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.