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Literature DB >> 24880889

Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.

Nicholas Ah Mew¹, Robert McCarter², Yevgeny Daikhin³, Uta Lichter-Konecki¹, Ilana Nissim³, Marc Yudkoff³, Mendel Tuchman⁴.

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.

Entities: Chemical Disease Gene Mutation Species

Mesh：

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Year: 2014 PMID： 24880889 PMCID： PMC4111993 DOI： 10.1016/j.jpeds.2014.04.012

Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406

12 in total

1. Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiency.

Authors: G Kuchler; D Rabier; F Poggi-Travert; D Meyer-Gast; J Bardet; V Drouin; M Cadoudal; J M Saudubray
Journal: J Inherit Metab Dis Date: 1996 Impact factor: 4.982

2. N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.

Authors: Sandra K Heibel; Nicholas Ah Mew; Ljubica Caldovic; Yevgeny Daikhin; Marc Yudkoff; Mendel Tuchman
Journal: Hum Mutat Date: 2011-09-09 Impact factor: 4.878

3. Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis.

Authors: Nicholas Ah Mew; Irma Payan; Yevgeny Daikhin; Ilana Nissim; Itzhak Nissim; Mendel Tuchman; Marc Yudkoff
Journal: Mol Genet Metab Date: 2009-07-14 Impact factor: 4.797

4. N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.

Authors: Nicholas Ah Mew; Robert McCarter; Yevgeny Daikhin; Itzhak Nissim; Marc Yudkoff; Mendel Tuchman
Journal: Pediatrics Date: 2010-06-21 Impact factor: 7.124

5. Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test.

Authors: Nathalie Guffon; Manuel Schiff; David Cheillan; Bendicht Wermuth; Johannes Häberle; Christine Vianey-Saban
Journal: J Pediatr Date: 2005-08 Impact factor: 4.406

6. Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Authors: Mendel Tuchman; Brendan Lee; Uta Lichter-Konecki; Marshall L Summar; Marc Yudkoff; Stephen D Cederbaum; Douglas S Kerr; George A Diaz; Margaretta R Seashore; Hye-Seung Lee; Robert J McCarter; Jeffrey P Krischer; Mark L Batshaw
Journal: Mol Genet Metab Date: 2008-06-17 Impact factor: 4.797

7. Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia.

Authors: Y Haraguchi; T Uchino; M Takiguchi; F Endo; M Mori; I Matsuda
Journal: Gene Date: 1991-11-15 Impact factor: 3.688

8. Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.

Authors: M Msall; M L Batshaw; R Suss; S W Brusilow; E D Mellits
Journal: N Engl J Med Date: 1984-06-07 Impact factor: 91.245

9. N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers.

Authors: Mendel Tuchman; Ljubica Caldovic; Yevgeny Daikhin; Oksana Horyn; Ilana Nissim; Itzhak Nissim; Mark Korson; Barbara Burton; Marc Yudkoff
Journal: Pediatr Res Date: 2008-08 Impact factor: 3.756

10. N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.

Authors: Nicholas Ah Mew; Ljubica Caldovic
Journal: Appl Clin Genet Date: 2011-08-24

11 in total

1. Inter-relations between 3-hydroxypropionate and propionate metabolism in rat liver: relevance to disorders of propionyl-CoA metabolism.

Authors: Kirkland A Wilson; Yong Han; Miaoqi Zhang; Jeremy P Hess; Kimberly A Chapman; Gary W Cline; Gregory P Tochtrop; Henri Brunengraber; Guo-Fang Zhang
Journal: Am J Physiol Endocrinol Metab Date: 2017-06-20 Impact factor: 4.310

2. Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.

Authors: Xihui Chen; Lijuan Yuan; Mao Sun; Qingbo Liu; Yuanming Wu
Journal: J Clin Lab Anal Date: 2018-01-04 Impact factor: 2.352

3. Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.

Authors: Dashuang Shi; Gengxiang Zhao; Nicholas Ah Mew; Mendel Tuchman
Journal: Mol Genet Metab Date: 2016-12-08 Impact factor: 4.797

Review 4. CPS1: Looking at an ancient enzyme in a modern light.

Authors: Matthew Nitzahn; Gerald S Lipshutz
Journal: Mol Genet Metab Date: 2020-10-10 Impact factor: 4.797

Review 5. Understanding Inborn Errors of Metabolism through Metabolomics.

Authors: Karen Driesen; Peter Witters
Journal: Metabolites Date: 2022-04-27

6. Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report.

Authors: Xiaoyan Yang; Jing Shi; Haihong Lei; Bin Xia; Dezhi Mu
Journal: Medicine (Baltimore) Date: 2017-06 Impact factor: 1.889

7. N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects.

Authors: Sufin Yap; Nadine Gougeard; Anthony R Hart; Belén Barcelona; Vicente Rubio
Journal: JIMD Rep Date: 2019-05-02