Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate.
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.
Caldovic
Ljubica
L
Children's Research Institute, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.
Morizono
Hiroki
H
Daikhin
Yevgeny
Y
Nissim
Itzhak
I
McCarter
Robert J
RJ
Yudkoff
Marc
M
Tuchman
Mendel
M
D000123:Acetyltransferases / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D051046:Amino-Acid N-Acetyltransferase; D000641:Ammonia / Q000097:blood; D000643:Ammonium Chloride / Q000493:pharmacokinetics; D001806:Blood Urea Nitrogen; D005260:Female; D005971:Glutamates / Q000627:therapeutic use*; D005973:Glutamine / Q000097:blood; D006801:Humans; D009587:Nitrogen Isotopes / Q000493:pharmacokinetics; D014508:Urea / Q000378:metabolism*
D005971:Glutamates; D009587:Nitrogen Isotopes; D000643:Ammonium Chloride; D005973:Glutamine; C006895:N-carbamylglutamate; D000641:Ammonia; D014508:Urea; D000123:Acetyltransferases; D051046:Amino-Acid N-Acetyltransferase; C494874:NAGS protein, human