Augmenting Ureagenesis in Patients with Partial Carbamyl Phosphate Synthetase 1 Deficiency with N-carbamyl-l-glutamate - 22/07/14
Doi : 10.1016/j.jpeds.2014.04.012
Nicholas Ah Mew, MD 1, 2, Robert McCarter, ScD 1, Yevgeny Daikhin, PhD 4, Uta Lichter-Konecki, MD, PhD 1, 2, Ilana Nissim 4, Marc Yudkoff, MD 4, Mendel Tuchman, MD 3
1 Center for Translational Sciences, Children's National Health System, The George Washington University, Washington, DC
2 Division of Genetics and Metabolism, Children's National Health System, The George Washington University, Washington, DC
3 Center for Genetic Medicine Research, Children's National Health System, The George Washington University, Washington, DC
4 Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA
Abstract |
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.
Le texte complet de cet article est disponible en PDF.Keyword : CPS1, NAGS, NCG
Plan
| Supported by the National Institutes of Health (R01HD058567, R01DK47870, R01DK64913, U54RR019453, P01HD26979, NS054900, and RR024134) and the O’Malley Family Foundation. The Urea Cycle Disorders Consortium (U54RR019453) is a part of the Rare Disease Clinical Research Network, supported through a collaboration between the Office of Rare Diseases Research, National Center for Advancing Translational Sciences, and Eunice Kennedy Shriver National Institute of Child Health and Human Development. The authors declare no conflicts of interest. |
© 2014
Elsevier Inc. Tous droits réservés.
Vol 165 - N° 2
P. 401 - août 2014 Retour au numéro
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