Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate.
case_report · Level V
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Abstract
In a patient with N-acetylglutamate synthase (NAGS) deficiency, incorporation of an isotopic label from ammonium chloride into urea was markedly reduced before treatment with N-carbamyl-L-glutamate (NCLG) and completely normalized following treatment. Blood ammonia rose following ammonium tracer ingestion before treatment but remained low following treatment. Serum urea concentration doubled following the treatment.
Medical subject headings
- Acetyltransferases
- Glutamates
- Urea