title: Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
abstract: N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error regarding the urea cycle, however, its diagnosis is important as it can be effectively treated by N-carbamylglutamate. We evaluated a patient with NAGS deficiency who harbored two novel NAGS mutations and who showed excellent responsiveness during 1 year of N-carbamylglutamate treatment.
authors: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
authors: Ja Hye
authors: JH
authors: Kim
authors: Department of Pediatrics, Children's Hospital, Pusan National University, Pusan, Korea.
authors: Yoo-Mi
authors: YM
authors: Kim
authors: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
authors: Beom Hee
authors: BH
authors: Lee
authors: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
authors: Ja Hyang
authors: JH
authors: Cho
authors: Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
authors: Gu-Hwan
authors: GH
authors: Kim
authors: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
authors: Jin-Ho
authors: JH
authors: Choi
authors: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
authors: Han-Wook
authors: HW
authors: Yoo
mesh_terms: D051046:Amino-Acid N-Acetyltransferase / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005971:Glutamates / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016896:Treatment Outcome; D056806:Urea Cycle Disorders, Inborn / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics
chemical_list: D005971:Glutamates; C006895:N-carbamylglutamate; D051046:Amino-Acid N-Acetyltransferase