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- Title
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
- Authors
Kim, Ja Hye; Kim, Yoo-Mi; Lee, Beom Hee; Cho, Ja Hyang; Kim, Gu-Hwan; Choi, Jin-Ho; Yoo, Han-Wook
- 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.
- Subjects
ENZYME deficiency; GLUTAMATE synthases; N-Acetylglutamate; GENETIC mutation; GLUTAMIC acid; DIAGNOSTIC imaging
- Publication
Journal of Human Genetics, 2015, Vol 60, Issue 7, p395
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1038/jhg.2015.30