Therapeutic effect of N-carbamylglutamate in CPS1 deficiency

Therapeutic effect of N-carbamylglutamate in CPS1 deficiency

The detoxification of ammonia to urea requires a functional hepatic urea cycle, which consists of six enzymes and two mitochondrial membrane transporters. The initial step of the urea cycle is catalyzed by carbamyl phosphate synthetase 1 (CPS1). CPS1 deficiency (CPS1D) is a rare autosomal recessive...

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Bibliographic Details
Main Authors: Yohei Sugiyama, Masaru Shimura, Minako Ogawa-Tominaga, Tomohiro Ebihara, Yoshina Kinouchi, Keitaro Isozaki, Tetsuro Matsuhashi, Makiko Tajika, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoki Ishida, Kayo Mizutani, Tomoko Tsuruoka, Kei Murayama
Format: Article
Language:English
Published: Elsevier 2020-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
N-carbamylglutamate
Carbamyl phosphate synthetase 1 deficiency
Urea cycle disorder
Hyperammonemia
Liver transplantation
Acute therapy
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920300689

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