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 NO2- 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.
| Original language | English |
|---|---|
| Pages (from-to) | 123-129 |
| Number of pages | 7 |
| Journal | Journal of Inherited Metabolic Disease |
| Volume | 28 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Jan 2005 |
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ASJC Scopus subject areas
- Endocrinology
- Genetics
- Genetics(clinical)
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Increased NO production in lysinuric protein intolerance. / Mannucci, L.; Emma, F.; Markert, M.; Bachmann, C.; Boulat, O.; Carrozzo, R.; Rizzoni, G.; Dionisi-Vici, C.
In: Journal of Inherited Metabolic Disease, Vol. 28, No. 2, 01.2005, p. 123-129.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Increased NO production in lysinuric protein intolerance
AU - Mannucci, L.
AU - Emma, F.
AU - Markert, M.
AU - Bachmann, C.
AU - Boulat, O.
AU - Carrozzo, R.
AU - Rizzoni, G.
AU - Dionisi-Vici, C.
PY - 2005/1
Y1 - 2005/1
N2 - 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 NO2- 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.
AB - 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 NO2- 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.
UR - http://www.scopus.com/inward/record.url?scp=19444377182&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=19444377182&partnerID=8YFLogxK
U2 - 10.1007/s10545-005-5954-x
DO - 10.1007/s10545-005-5954-x
M3 - Article
C2 - 15877200
AN - SCOPUS:19444377182
VL - 28
SP - 123
EP - 129
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 2
ER -