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

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

Kurko, Johanna (author): Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland

Tringham, Maaria (author): Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland

Tanner, Laura (author): Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland; Department of Clinical Genetics, Turku University Hospital, Turku, Finland

Näntö-Salonen, Kirsti (author): Department of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland

Vähä-Mäkilä, Mari (author): Department of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland

Nygren, Heli (author): VTT Technical Research Centre of Finland, Espoo, Finland

Pöhö, Päivi (author): Faculty of Pharmacy, University of Helsinki, Helsinki, Finland

Lietzen, Niina (author): Turku Centre for Biotechnology, University of Turku, Turku, Finland; Åbo Akademi University, Turku, Finland

Mattila, Ismo (author): Steno Diabetes Center A/S, Gentofte, Denmark

Olkku, Anu (author): Eastern Finland Laboratory Centre, Kuopio, Finland

Hyötyläinen, Tuulia, 1971- (author): Steno Diabetes Center A/S, Gentofte, Denmark

Orešič, Matej, 1967- (author): Steno Diabetes Center A/S, Gentofte, Denmark

Simell, Olli (author): Department of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland

Niinikoski, Harri (author): Department of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland

Mykkänen, Juha (author): Department of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland; Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, Turku, Finland

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Saunders Elsevier, 2016
2016
English.
In: Metabolism. - : Saunders Elsevier. - 0026-0495 .- 1532-8600. ; 65:9, s. 1361-1375

Related links:: https://urn.kb.se/re...; show more...; https://doi.org/10.1...; show less...

Journal article (peer-reviewed)

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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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By the author/editor: Kurko, Johanna; Tringham, Maaria; Tanner, Laura; Näntö-Salonen, K ...; Vähä-Mäkilä, Mar ...; Nygren, Heli; show more...; Pöhö, Päivi; Lietzen, Niina; Mattila, Ismo; Olkku, Anu; Hyötyläinen, Tuu ...; Orešič, Matej, 1 ...; Simell, Olli; Niinikoski, Harr ...; Mykkänen, Juha; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Endocrinology an ...

Articles in the publication: Metabolism

By the university: Örebro University

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

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