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.
Children's Research Institute, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.
Ljubica
L
Caldovic
Hiroki
H
Morizono
Yevgeny
Y
Daikhin
Itzhak
I
Nissim
Robert J
RJ
McCarter
Marc
M
Yudkoff
Mendel
M
Tuchman
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