Increased NO production in lysinuric protein intolerance.

Détails

ID Serval
serval:BIB_DE0750EDEF5F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Increased NO production in lysinuric protein intolerance.
Périodique
Journal of Inherited Metabolic Disease
Auteur⸱e⸱s
Mannucci L., Emma F., Markert M., Bachmann C., Boulat O., Carrozzo R., Rizzoni G., Dionisi-Vici C.
ISSN
0141-8955
Statut éditorial
Publié
Date de publication
2005
Peer-reviewed
Oui
Volume
28
Numéro
2
Pages
123-129
Langue
anglais
Résumé
Lysinuric protein intolerance (LPI) is a disorder of dibasic amino acid transport secondary to mutation of the SLC7A7 gene characterized by renal failure, pulmonary alveolar proteinosis, lupus-like autoimmune symptoms and usually increased plasma citrulline. In order to better understand the underlying mechanism, we studied the plasma and urinary nitrite/nitrate (NO2-/NO3-) concentrations in three LPI patients and the in vitro NO2- production in cultured fibroblasts. Our data show that NO3- levels are increased in the plasma of patients with LPI. Similarly, NO2- release in the medium of cultured fibroblasts was increased. On this basis, we hypothesize that some of the poorly understood clinical signs of LPI could be related to the activation of the NO-citrulline pathway.
Mots-clé
Adolescent, Amino Acid Metabolism, Inborn Errors/genetics, Amino Acid Metabolism, Inborn Errors/metabolism, Antigens, CD98 Light Chains/genetics, Cells, Cultured, Child, Citrulline/metabolism, Fibroblasts/cytology, Fibroblasts/metabolism, Humans, Lysine/metabolism, Nitrates/blood, Nitrates/urine, Nitric Oxide/metabolism, Nitric Oxide Synthase/metabolism, Nitric Oxide Synthase Type II, Nitrites/blood, Nitrites/urine
Pubmed
Web of science
Création de la notice
05/02/2008 11:24
Dernière modification de la notice
20/08/2019 17:02
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