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

Journal of Human Genetics
Ja Hye KimHan-Wook Yoo

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.

References

Mar 23, 2010·Molecular Genetics and Metabolism·Ljubica CaldovicMendel Tuchman
May 31, 2012·Orphanet Journal of Rare Diseases·Johannes HäberleCarlo Dionisi-Vici
Dec 20, 2012·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·A CartagenaC Prasad
Nov 16, 2013·European Journal of Pediatrics·Anouk Van LeynseeleLinda De Meirleir

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Citations

Nov 3, 2017·Biochemical Genetics·Muhammad WasimHina Ayesha
Jan 1, 2016·Expert Review of Endocrinology & Metabolism·Cristel C Chapel-CrespoKimihiko Oishi
Oct 11, 2020·Orphanet Journal of Rare Diseases·Aileen Kenneson, Rani H Singh

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