Literature DB >> 16126063

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

Nathalie Guffon1, Manuel Schiff, David Cheillan, Bendicht Wermuth, Johannes Häberle, Christine Vianey-Saban.   

Abstract

In a prospective study, patients with a suspected urea cycle defect underwent oral N-carbamoyl-L-glutamic acid loading testing. In patients with subsequently confirmed N-acetylglutamate synthase deficiency, hyperammonemia normalized within 8 hours. This test may be useful in the early diagnosis of patients with suspected urea cycle disorders.

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Year:  2005        PMID： 16126063     DOI： 10.1016/j.jpeds.2005.04.059

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


  14 in total

1.  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

2.  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

Review 3.  Clinical practice: the management of hyperammonemia.

Authors:  Johannes Häberle
Journal:  Eur J Pediatr       Date:  2010-12-17       Impact factor: 3.183

Review 4.  N-acetylglutamate synthase: structure, function and defects.

Authors:  Ljubica Caldovic; Nicholas Ah Mew; Dashuang Shi; Hiroki Morizono; Marc Yudkoff; Mendel Tuchman
Journal:  Mol Genet Metab       Date:  2010-02-26       Impact factor: 4.797

Review 5.  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

6.  Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome.

Authors:  Anouk Van Leynseele; Anna Jansen; Philippe Goyens; Geert Martens; Stefaan Peeters; An Jonckheere; Linda De Meirleir
Journal:  Eur J Pediatr       Date:  2014-12       Impact factor: 3.183

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

Authors:  Nicholas Ah Mew; Robert McCarter; Yevgeny Daikhin; Uta Lichter-Konecki; Ilana Nissim; Marc Yudkoff; Mendel Tuchman
Journal:  J Pediatr       Date:  2014-05-29       Impact factor: 4.406

Review 8.  Suggested guidelines for the diagnosis and management of urea cycle disorders.

Authors:  Johannes Häberle; Nathalie Boddaert; Alberto Burlina; Anupam Chakrapani; Marjorie Dixon; Martina Huemer; Daniela Karall; Diego Martinelli; Pablo Sanjurjo Crespo; René Santer; Aude Servais; Vassili Valayannopoulos; Martin Lindner; Vicente Rubio; Carlo Dionisi-Vici
Journal:  Orphanet J Rare Dis       Date:  2012-05-29       Impact factor: 4.123

9.  Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.

Authors:  Cristel C Chapel-Crespo; George A Diaz; Kimihiko Oishi
Journal:  Expert Rev Endocrinol Metab       Date:  2016-09-28

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
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