Increased NO production in lysinuric protein intolerance.

Details

Serval ID
serval:BIB_DE0750EDEF5F
Type
Article: article from journal or magazin.
Collection
Publications
Title
Increased NO production in lysinuric protein intolerance.
Journal
Journal of Inherited Metabolic Disease
Author(s)
Mannucci L., Emma F., Markert M., Bachmann C., Boulat O., Carrozzo R., Rizzoni G., Dionisi-Vici C.
ISSN
0141-8955
Publication state
Published
Issued date
2005
Peer-reviewed
Oui
Volume
28
Number
2
Pages
123-129
Language
english
Abstract
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.
Keywords
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
Create date
05/02/2008 11:24
Last modification date
20/08/2019 17:02
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