Augmenting Ureagenesis in Patients with Partial Carbamyl Phosphate Synthetase 1 Deficiency with N-carbamyl- l -glutamate

Identical studies using stable isotopes were performed before and after a 3-day trial of oral N -carbamyl- l -glutamate (NCG) in 5 subjects with late-onset carbamyl phosphate synthetase deficiency. NCG augmented ureagenesis and decreased plasma ammonia in 4 of 5 subjects. There was marked improvemen...

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Bibliographic Details
Published in:	The Journal of pediatrics Vol. 165; no. 2; pp. 401 - 403.e3
Main Authors:	Ah Mew, Nicholas, MD, McCarter, Robert, ScD, Daikhin, Yevgeny, PhD, Lichter-Konecki, Uta, MD, PhD, Nissim, Ilana, Yudkoff, Marc, MD, Tuchman, Mendel, MD
Format:	Journal Article
Language:	English
Published:	United States Mosby, Inc 01-08-2014
Subjects:	Adolescent Adult Ammonia - blood Carbamoyl-Phosphate Synthase I Deficiency Disease - blood Carbamoyl-Phosphate Synthase I Deficiency Disease - drug therapy Child Child, Preschool Female Glutamates - therapeutic use Glutamine - blood Humans Linear Models Male Mass Spectrometry Pediatrics Treatment Outcome Urea - metabolism Young Adult N-Acetyl- l-glutamate synthase NCG NAGS CPS1 Carbamyl phosphate synthetase 1 N-Carbamyl- l-glutamate
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Summary:	Identical studies using stable isotopes were performed before and after a 3-day trial of oral N -carbamyl- l -glutamate (NCG) in 5 subjects with late-onset carbamyl phosphate synthetase deficiency. NCG augmented ureagenesis and decreased plasma ammonia in 4 of 5 subjects. There was marked improvement in nitrogen metabolism with long-term NCG administration in 1 subject.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23
ISSN:	0022-3476 1097-6833
DOI:	10.1016/j.jpeds.2014.04.012