SwePub
Sök i LIBRIS databas

  Utökad sökning

onr:"swepub:oai:DiVA.org:oru-59379"
 

Sökning: onr:"swepub:oai:DiVA.org:oru-59379" > Imbalance of plasma...

Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI)

Kurko, Johanna, (författare)
Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland
Tringham, Maaria, (författare)
Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland
Tanner, Laura, (författare)
Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland; Department of Clinical Genetics, Turku University Hospital, Turku, Finland
visa fler...
Näntö-Salonen, Kirsti, (författare)
Department of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland
Vähä-Mäkilä, Mari, (författare)
Department of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland
Nygren, Heli, (författare)
VTT Technical Research Centre of Finland, Espoo, Finland
Pöhö, Päivi, (författare)
Faculty of Pharmacy, University of Helsinki, Helsinki, Finland
Lietzen, Niina, (författare)
Turku Centre for Biotechnology, University of Turku, Turku, Finland; Åbo Akademi University, Turku, Finland
Mattila, Ismo, (författare)
Steno Diabetes Center A/S, Gentofte, Denmark
Olkku, Anu, (författare)
Eastern Finland Laboratory Centre, Kuopio, Finland
Hyötyläinen, Tuulia, 1971- (författare)
Steno Diabetes Center A/S, Gentofte, Denmark
Orešič, Matej, 1967- (författare)
Steno Diabetes Center A/S, Gentofte, Denmark
Simell, Olli, (författare)
Department of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland
Niinikoski, Harri, (författare)
Department of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland
Mykkänen, Juha, (författare)
Department of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland; Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, Turku, Finland
visa färre...
2016
Engelska.
Ingår i: Metabolism : Clinical and Experimental. - Saunders Elsevier. - 0026-0495. ; 65:9, s. 1361-1375
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • BACKGROUND: Lysinuric protein intolerance (LPI [MIM 222700]) is an aminoaciduria with defective transport of cationic amino acids in epithelial cells in the small intestine and proximal kidney tubules due to mutations in the SLC7A7 gene. LPI is characterized by protein malnutrition, failure to thrive and hyperammonemia. Many patients also suffer from combined hyperlipidemia and chronic kidney disease (CKD) with an unknown etiology.METHODS: Here, we studied the plasma metabolomes of the Finnish LPI patients (n=26) and healthy control individuals (n=19) using a targeted platform for analysis of amino acids as well as two analytical platforms with comprehensive coverage of molecular lipids and polar metabolites.RESULTS: Our results demonstrated that LPI patients have a dichotomy of amino acid profiles, with both decreased essential and increased non-essential amino acids. Altered levels of metabolites participating in pathways such as sugar, energy, amino acid and lipid metabolism were observed. Furthermore, of these metabolites, myo-inositol, threonic acid, 2,5-furandicarboxylic acid, galactaric acid, 4-hydroxyphenylacetic acid, indole-3-acetic acid and beta-aminoisobutyric acid associated significantly (P<0.001) with the CKD status. Lipid analysis showed reduced levels of phosphatidylcholines and elevated levels of triacylglycerols, of which long-chain triacylglycerols associated (P<0.01) with CKD.CONCLUSIONS: This study revealed an amino acid imbalance affecting the basic cellular metabolism, disturbances in plasma lipid composition suggesting hepatic steatosis and fibrosis and novel metabolites correlating with CKD in LPI. In addition, the CKD-associated metabolite profile along with increased nitrite plasma levels suggests that LPI may be characterized by increased oxidative stress and apoptosis, altered microbial metabolism in the intestine and uremic toxicity.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)

Nyckelord

Lysinuric protein intolerance; Chronic kidney disease; Combined hyperlipidemia; Metabolomics; Lipidomics

Publikations- och innehållstyp

art (ämneskategori)
ref (ämneskategori)

Hitta via bibliotek

Till lärosätets databas

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy