Therapeutic effect of
Acute therapy
Carbamyl phosphate synthetase 1 deficiency
Hyperammonemia
Liver transplantation
N-carbamylglutamate
Urea cycle disorder
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
received:
28
04
2020
revised:
24
06
2020
accepted:
24
06
2020
entrez:
17
7
2020
pubmed:
17
7
2020
medline:
17
7
2020
Statut:
epublish
Résumé
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 disorder.
Identifiants
pubmed: 32670798
doi: 10.1016/j.ymgmr.2020.100622
pii: S2214-4269(20)30068-9
pii: 100622
pmc: PMC7347628
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100622Informations de copyright
© 2020 Published by Elsevier Inc.
Déclaration de conflit d'intérêts
Authors declare no conflict of interest.
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