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  • Kurko, JohannaDepartment of Medical Biochemistry and Genetics, University of Turku, Turku, Finland (author)

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

  • Article/chapterEnglish2016

Publisher, publication year, extent ...

  • Saunders Elsevier,2016
  • printrdacarrier

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  • LIBRIS-ID:oai:DiVA.org:oru-59379
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-59379URI
  • https://doi.org/10.1016/j.metabol.2016.05.012DOI

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  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Funding Agencies:Turku University Foundation  Finnish Cultural Foundation  Finnish Concordia Fund  Maud Kuistila Memorial Foundation  Paivikki and Sakari Sohlberg Foundation  Foundation for Pediatric Research  Tyks Foundation  Magnus Ehrnrooth Foundation  Turku University Hospital ERVA Fund 
  • 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.

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  • Tringham, MaariaDepartment of Medical Biochemistry and Genetics, University of Turku, Turku, Finland (author)
  • Tanner, LauraDepartment of Medical Biochemistry and Genetics, University of Turku, Turku, Finland; Department of Clinical Genetics, Turku University Hospital, Turku, Finland (author)
  • Näntö-Salonen, KirstiDepartment of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland (author)
  • Vähä-Mäkilä, MariDepartment of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland (author)
  • Nygren, HeliVTT Technical Research Centre of Finland, Espoo, Finland (author)
  • Pöhö, PäiviFaculty of Pharmacy, University of Helsinki, Helsinki, Finland (author)
  • Lietzen, NiinaTurku Centre for Biotechnology, University of Turku, Turku, Finland; Åbo Akademi University, Turku, Finland (author)
  • Mattila, IsmoSteno Diabetes Center A/S, Gentofte, Denmark (author)
  • Olkku, AnuEastern Finland Laboratory Centre, Kuopio, Finland (author)
  • Hyötyläinen, Tuulia,1971-Steno Diabetes Center A/S, Gentofte, Denmark(Swepub:oru)tihn (author)
  • Orešič, Matej,1967-Steno Diabetes Center A/S, Gentofte, Denmark(Swepub:oru)moc (author)
  • Simell, OlliDepartment of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland (author)
  • Niinikoski, HarriDepartment of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland (author)
  • Mykkänen, JuhaDepartment of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland; Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, Turku, Finland (author)
  • Department of Medical Biochemistry and Genetics, University of Turku, Turku, FinlandDepartment of Medical Biochemistry and Genetics, University of Turku, Turku, Finland; Department of Clinical Genetics, Turku University Hospital, Turku, Finland (creator_code:org_t)

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  • In:Metabolism: Saunders Elsevier65:9, s. 1361-13750026-04951532-8600

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