Literature DB >> 25787344

Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.

Ja Hye Kim1, Yoo-Mi Kim2, Beom Hee Lee1, Ja Hyang Cho1, Gu-Hwan Kim3, Jin-Ho Choi1, Han-Wook Yoo1.   

Abstract

N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error regarding the urea cycle, however, its diagnosis is important as it can be effectively treated by N-carbamylglutamate. We evaluated a patient with NAGS deficiency who harbored two novel NAGS mutations and who showed excellent responsiveness during 1 year of N-carbamylglutamate treatment.

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Year:  2015        PMID： 25787344     DOI： 10.1038/jhg.2015.30

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  9 in total

1.  N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication.

Authors:  C Bachmann; S Krähenbühl; J P Colombo; G Schubiger; K H Jaggi; O Tönz
Journal:  N Engl J Med       Date:  1981-02-26       Impact factor: 91.245

Review 2.  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 3.  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

4.  High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.

Authors:  Beom Hee Lee; Yoo-Mi Kim; Sun Hee Heo; Gu-Hwan Kim; In-Hee Choi; Byong Sop Lee; Ellen Ai-Rhan Kim; Ki-Soo Kim; Won Kyoung Jhang; Seong Jong Park; Han-Wook Yoo
Journal:  Mol Genet Metab       Date:  2012-11-28       Impact factor: 4.797

5.  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

6.  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

7.  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

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.  New developments in the treatment of hyperammonemia: emerging use of carglumic acid.

Authors:  Marta Daniotti; Giancarlo la Marca; Patrizio Fiorini; Luca Filippi
Journal:  Int J Gen Med       Date:  2011-01-07
  9 in total
  7 in total

1.  A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.

Authors:  Masaki Takayanagi
Journal:  J Hum Genet       Date:  2015-05-21       Impact factor: 3.172

2.  Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.

Authors:  Johannes Häberle; Marvin B Moore; Nantaporn Haskins; Véronique Rüfenacht; Dariusz Rokicki; Estela Rubio-Gozalbo; Mendel Tuchman; Nicola Longo; Mark Yandell; Ashley Andrews; Nicholas AhMew; Ljubica Caldovic
Journal:  Hum Mutat       Date:  2021-09-24       Impact factor: 4.878

3.  Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.

Authors:  Dahye Kim; Jung Min Ko; Yoon-Myung Kim; Go Hun Seo; Gu-Hwan Kim; Beom Hee Lee; Han-Wook Yoo
Journal:  J Hum Genet       Date:  2018-05-17       Impact factor: 3.172

Review 4.  Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.

Authors:  Aileen Kenneson; Rani H Singh
Journal:  Orphanet J Rare Dis       Date:  2020-10-09       Impact factor: 4.123

5.  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

6.  N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.

Authors:  Eiman H Al Kaabi; Ayman W El-Hattab
Journal:  Mol Genet Metab Rep       Date:  2016-08-17

7.  N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

Authors:  Monique Williams; Alberto Burlina; Laura Rubert; Giulia Polo; George J G Ruijter; Myrthe van den Born; Véronique Rüfenacht; Nantaporn Haskins; Laura J C M van Zutven; Mendel Tuchman; Jasper J Saris; Johannes Häberle; Ljubica Caldovic
Journal:  Sci Rep       Date:  2018-10-18       Impact factor: 4.379
  7 in total

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