Literature DB >> 15480384

Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate.

Ljubica Caldovic1, Hiroki Morizono, Yevgeny Daikhin, Itzhak Nissim, Robert J McCarter, Marc Yudkoff, Mendel Tuchman.   

Abstract

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.

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Year:  2004        PMID： 15480384     DOI： 10.1016/j.jpeds.2004.06.047

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


  25 in total

1.  Measuring in vivo ureagenesis with stable isotopes.

Authors:  Marc Yudkoff; Nicholas Ah Mew; Yevgeny Daikhin; Oksana Horyn; Ilana Nissim; Itzhak Nissim; Irma Payan; Mendel Tuchman
Journal:  Mol Genet Metab       Date:  2010-02-26       Impact factor: 4.797

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.  Stable isotopes in the diagnosis and treatment of inherited hyperammonemia.

Authors:  Nicholas Ah Mew; Marc Yudkoff; Mendel Tuchman
Journal:  J Pediatr Biochem       Date:  2014-01-01

4.  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

5.  Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.

Authors:  Yoon J Jang; Abigail L LaBella; Timothy P Feeney; Nancy Braverman; Mendel Tuchman; Hiroki Morizono; Nicholas Ah Mew; Ljubica Caldovic
Journal:  Hum Mutat       Date:  2018-01-16       Impact factor: 4.878

6.  A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase.

Authors:  Emilee Senkevitch; Juan Cabrera-Luque; Hiroki Morizono; Ljubica Caldovic; Mendel Tuchman
Journal:  Mol Genet Metab       Date:  2012-03-17       Impact factor: 4.797

7.  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

Review 8.  Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.

Authors:  A Cartagena; A N Prasad; C A Rupar; M Strong; M Tuchman; N Ah Mew; C Prasad
Journal:  Can J Neurol Sci       Date:  2013-01       Impact factor: 2.104

9.  Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.

Authors:  Peter Gessler; Peter Buchal; Hans U Schwenk; Bendicht Wermuth
Journal:  Eur J Pediatr       Date:  2009-06-17       Impact factor: 3.183

10.  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
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