Metabolomics of dietary fatty acid restriction in patients with phenylketonuria

PLoS ONE

Volumn 7, Issue 8, 2012, Pages

  Mütze, Ulrike ^a   Beblo, Skadi ^a   Kortz, Linda ^a,b   Matthies, Claudia ^c   Koletzko, Berthold ^c   Bruegel, Mathias ^d   Rohde, Carmen ^a   Thiery, Joachim ^a   Kiess, Wieland ^a   Ceglarek, Uta ^a,b  

^a UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^b UNIVERSITY OF LEIPZIG   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE; FATTY ACID; GAMMA LINOLENIC ACID; GLYCEROPHOSPHOLIPID; ICOSANOID; PHYTOSTEROL; POLYUNSATURATED FATTY ACID; SATURATED FATTY ACID; THROMBOXANE; THROMBOXANE B2; THROMBOXANE B3; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; CONTROLLED STUDY; FATTY ACID BLOOD LEVEL; FATTY ACID OXIDATION; FEMALE; HUMAN; HUMAN CELL; LIPID COMPOSITION; LIQUID CHROMATOGRAPHY; LOW FAT DIET; MALE; METABOLIC REGULATION; METABOLOMICS; MITOCHONDRIAL RESPIRATION; PHENYLKETONURIA; PRESCHOOL CHILD; SUPERNATANT; TANDEM MASS SPECTROMETRY; THROMBOCYTE ACTIVATION; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT;

BLOOD PLATELETS; CARNITINE; CHILD; CHROMATOGRAPHY, GAS; CHROMATOGRAPHY, LIQUID; EICOSANOIDS; FATTY ACIDS; GAMMA-LINOLENIC ACID; HUMANS; METABOLOMICS; OXIDATION-REDUCTION; PHENYLKETONURIAS; PHYTOSTEROLS; TANDEM MASS SPECTROMETRY;

EID: 84865057039     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0043021     Document Type: Article

References (47)

1. Loeber JG 2007. Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis 30:: 430--438.
2. Scriver CR, Kaufman S, Eisensmith RC, Woo SLC (1998) The hyperphenylalaninemias. In: Scriver RC, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. New York: Mc Graw-Hill. 1015-75.
3. Koletzko B, Sauerwald T, Demmelmair H, Herzog M, von Schenck U, et al. ((2007)) Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial. J Inherit Metab Dis. 30:: 326--32.
4. Pöge AP, Bäumann K, Müller E, Leichsenring M, Schmidt H, et al. ((1998)) Long-chain polyunsaturated fatty acids in plasma and erythrocyte membrane lipids of children with phenylketonuria after controlled linoleic acid intake. J Inherit Metab Dis. 21:: 373--81.
5. Agostoni C, Marangoni F, Riva E, Giovannini M, Galli C, ((1997)) Plasma arachidonic acid and serum thromboxane B2 concentrations in phenylketonuric children negatively correlate with dietary compliance. Prostaglandins Leukot Essent Fatty Acids 56:: 219--22.
6. Galli C, Agostoni C, Mosconi C, Riva E, Salari PC, et al. ((1991)) Reduced plasma C-20 and C-22 polyunsaturated fatty acids in children with phenylketonuria during dietary intervention. J Pediatr 119:: 562--7.
7. Moseley K, Koch R, Moser AB, ((2002)) Lipid status and long-chain polyunsaturated fatty acid concentrations in adults and adolescents with phenylketonuria on phenylalanine-restricted diet. J Inherit Metab Dis 25:: 56--64.
8. Calder PC, ((2006)) N-3 polyunsaturated fatty acids, inflammation and inflammatory diseases. Am J Clin Nutr 83:: 1505S--1519S.
9. Calder PC, ((2008)) The relationship between the fatty acid composition of immune cells and their function. Prostaglandins Leukot Essent Fatty Acids 79:: 101--108.
10. Russo GL, ((2009)) Dietary n-6 and n-3 polyunsaturated fatty acids: from biochemistry to clinical implications in cardiovascular prevention. Biochemical Pharmacology 77:: 937--946.
11. Riediger ND, Othman RA, Suh M, Moghadasian MH, ((2009)) A systemic Review of the roles of n-3 Fatty Acids in Health and Disease. J Am Diet Assoc 109:: 668--679.
12. Böhles H, Ullrich K, Endres W, Behbehani AW, Wendel U, ((1991)) Inadequate iron availability as a possible cause of low serum carnitine concentrations in patients with phenylketonuria. Eur J Pediatr 150:: 425--8.
13. Schulpis KH, Nounopoulos C, Scarpalezou A, Bouloukos A, Missiou-Tsagarakis S, ((1990)) Serum carnitine level in phenylketonuric children under dietary control in Greece. Acta Paediatr Scand 79:: 930--934.
14. Vilaseca MA, Briones P, Ferrer I, Campistol J, Riverola A, et al. ((1993)) Controlled diet in phenylketonuria may cause serum carnitine deficiency. J Inherit Metab Dis 16:: 101--104.
15. Weigel C, Kiener C, Meier N, Schmid P, Rauh M, et al. ((2008)) Carnitine status in early-treated children, adolescents and young adults with phenylketonuria on low phenylalanine diets. Ann Nutr Metab. 53:: 91--95.
16. Acosta PB, Alfin-Slater RB, Koch R, ((1973)) Serum lipids in children with phenylketonuria (PKU). J Am Diet Assoc 63:: 631--635.
17. Galluzzo CR, Ortisi MT, Castelli L, Agostoni C, Longhi R (1985) Plasma lipid concentrations in 42 treated phenylketonuric children. J Inherit Metab Dis Suppl 2: 129.
18. Schulpis KH, Karakonstantakis T, Bartzeliotou A, Karikas GA, Papassotiriou I, ((2004)) The association of serum lipids, lipoproteins and apolipoproteins with selected trace elements and minerals in phenylketonuric patients on diet. Clin Nutr. 23:: 401--407.
19. Brauer R, Leichtle A, Fiedler GM, Thiery J, Ceglarek U, ((2011)) Preanalytical standardization of amino acid and acylcarnitine metabolite profiling in human blood using tandem mass spectrometry. Metabolomics 7:: 344--353.
20. Lembcke J, Ceglarek U, Fiedler GM, Baumann S, Leichtle A, et al. (2005). Rapid quantification of free and esterified phytosterols in human serum using APPI-LC-MS/MS. J Lipid Res 46; 21-26.
21. Glaser C, Demmelmair H, Koletzko B, ((2010)) Hight-throughput analysis of fatty acid composition of plasma gylcerophospholids. J lipid Res. 51:: 216--221.
22. Kortz L, Geyer R, Ludwig U, Planert M, Bruegel M, et al. (2009) Simultaneous eicosanoid profiling and identification by liquid chromatography and hybrid triple quadrupole-linear ion trap mass spectrometry for metabolomic studies in human plasma. J Lab Med 33, 341-348.
23. Deems R, Buczynski MW, Bowers-Gentry R, Harkewicz R, Dennis EA, ((2007)) Detection and quantitation of eicosanoids via high performance liquid chromatography-electrospray ionization-mass spectrometry. Methods Enzymol. 432:: 59--82.
24. Needleman P, Moncada S, Bunting S, et al. ((1976)) Identification of an enzyme in platelet microsomes which generates thromboxane A2 from prostaglandin endoperoxides. Nature 261:: 558--560.
25. Lawson JA, Patrono C, Ciabattoni G, et al. ((1986)) Long-lived enzymatic metabolites of thromboxane B2 in the human circulation. Anal Biochem 155:: 198--205.
26. Deutsche Gesellschaft für Ernährung e.V.(DGE), Österreichische Gesellschaft für Ernährung (ÖGE), Schweizerische Gesellschaft für Ernährungsforschung (SGE), Schweizerische Vereinigung für Ernährung (DACH). Referenzwerte für die Nährstoffzufuhr (German). Anon. 2000. 1st ed. Frankfurt am Main, Umschau/Braus.
27. Colomé C, Artuch R, Lambruschini N, Cambra FJ, Campistol J, et al. ((2001)) Is there a relationship between plasma phenylalanine and cholesterol in phenylketonuric patients under dietary treatment? Clin Biochem 34:: 373--6.
28. Rohde C, Mütze U, Weigel JF, Ceglarek U, Thiery J, et al. (2012) Unrestricted consumption of fruits and vegetables in phenylketonuria: no major impact on metabolic control. Eur J Clin Nutr. [Epub ahead of print] 2012 Feb 8.
29. Mensink GBM, Heseker H, Richter A, Stahl A, Vohmann C (2007) Ernährungsstudie als KiGGS-Modul (EsKiMo). Forschungsbericht. Robert Koch-Insitut, Berlin, Universität Paderborn. p.100.
30. Fischer GM, Nemeti B, Farkas V, Debreceni B, Laszlo A, et al. ((2000)) Metabolism of carnitine in phenylacetic acid-treated rats and in patients with phenylketonuria. Biochim Biophys Acta. 1501:: 200--10.
31. Castillo M, Zafra MF, Garcia-Peregrin E, ((1988)) Inhibition of brain and liver 3-hydroxy-3-methylglutaryl-CoA reductase and mevalonate-5-pyrophosphate decarboxylase in experimental hyperphenylalaninemia. Neurochem Res. 13:: 551--5.
32. Shefer S, Tint GS, Jean-Guillaume D, Daikhin E, Kendler A, et al. ((2000)) Is there a relationship between 3-hydroxy-3-methylglutaryl coenzyme a reductase activity and forebrain pathology in the PKU mouse? J Neurosci Res. 61:: 549--63.
33. Beblo S, Reinhardt H, Demmelmair H, Muntau AC, Koletzko B, ((2007)) Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. J Pediatr 150:: 479--84.
34. Birch EE, Hoffman DR, Uauy R, Birch DG, Prestidge C, ((1998)) Visual acuity and the essentiality of docosahexaenoic acid and arachidonic acid in the diet of term infants. Pediatr Res. 44:: 201--9.
35. Birch EE, Garfield S, Hoffman DR, Uauy R, Birch DG, ((2000)) A randomized controlled trial of early dietary supply of long-chain polyunsaturated fatty acids and mental development in term infants. Dev Med Child Neurol. 42:: 174--81.
36. Salem N Jr, Litman B, Kim HY, Gawrisch K, ((2001)) Mechanisms of action of docosahexaenoic acid in the nervous system. Lipids. 36:: 945--59.
37. Beblo S, Reinhardt H, Muntau AC, Mueller-Felber W, Roscher AA, Koletzko B. Fish oil supplementation improves visual evoked potentials in children with phenylketonuria. Neurology 57:: 1488--1491.
38. Decsi T, Koletzko B, ((1994)) Fatty acid composition of plasma lipid classes in healthy subjects from birth to young adulthood. Eur J Pediatr. 153:: 520--5.
39. Glaser C, Demmelmair H, Sausenthaler S, Herbarth O, Heinrich J, et al. ((2010)) Fatty acid composition of serum glycerophospholipids in children. J Pediatr (157):: 826--31.
40. Martinez M, ((1992)) Tissue levels of polyunsaturated fatty acids during early human development. J Pediatr 120:: S129--S138.
41. Koletzko B, Rodriguez-Palmero M, ((1999)) Polyunsaturated fatty acids in human milk and their role in early infant development. J mammary Gland Biol Neoplasia 4:: 269--284.
42. Koletzko B, Sinclair AJ, ((1999)) Long-chain polyunsaturated fatty acids in diets for infants: choices for recommendingand regulating bodies annd for manufacturers of dietary products. Lipids 34:: 215--220.
43. Sutor AH (1999) Thrombozytosis. In: Lilleyman JS, Hann IM, Blanchette VS, editors. Pediatric Hematology Churchil Livingstone, London, Edinburgh, New York, Philadelphia, Sydney, Toronto 455-464.
44. Dame C, Sutor AH, ((2005)) Primary and secondary thrombocytosis in childhood. Br J Haematol. 129:: 165--77.
45. Bath PM, Butterworth RJ, ((1996)) Platelet size: measurement, physiology and vascular disease. Blood Coagul Fibrinolysis. 7:: 157--61.
46. Thompson CB, Jakubowski JA, Quinn PG, Deykin D, Valeri CR, ((1983)) Platelet size as a determinant of platelet function. J Lab Clin Med 101:: 205--13.
47. Vizioli L, Muscari S, Muscari A, ((2009)) The relationship of mean platelet volume with the risk and prognosis of cardiovascular diseases. Int J Clin Pract. 63:: 1509--15.