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Increased NO production in lysinuric protein intolerance
Author(s) -
Mannucci L.,
Emma F.,
Markert M.,
Bachmann C.,
Boulat O.,
Carrozzo R.,
Rizzoni G.,
DionisiVici C.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-5954-x
Subject(s) - citrulline , medicine , aminoaciduria , endocrinology , nitrite , in vitro , chemistry , mutation , arginine , biochemistry , amino acid , gene , urine , nitrate , organic chemistry
Summary 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 (NO 2 ‐ /NO 3 ‐ ) concentrations in three LPI patients and the in vitro NO 2 ‐ production in cultured fibroblasts. Our data show that NO 3 ‐ levels are increased in the plasma of patients with LPI. Similarly, NO 2 ‐ 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.