{"id":12210,"date":"2025-01-14T18:03:54","date_gmt":"2025-01-14T17:03:54","guid":{"rendered":"https:\/\/valintermed.com\/?p=12210"},"modified":"2025-01-14T18:03:54","modified_gmt":"2025-01-14T17:03:54","slug":"defitsit-n-atsetilglutamatsintazy","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/defitsit-n-atsetilglutamatsintazy\/","title":{"rendered":"N-acetylglutamate synthase deficiency"},"content":{"rendered":"
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N-acetylglutamate synthase deficiency (NAGS) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme N-acetylglutamate synthase, which is critical for the synthesis of N-acetylglutamate, the activator of carbamyl phosphate synthetase I (CPS1). This enzyme plays a key role in the urea cycle, and its deficiency leads to disruption of amino acid metabolism and excessive accumulation of toxic products, which can cause severe metabolic crises, as well as neurological impairment. The condition can manifest itself as early as infancy, with symptoms such as vomiting, lethargy, seizures, and can progress to coma or death if not treated appropriately.<\/p>\n

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