Citation for published version (APA): Mazzola, P. (2016). Phenylketonuria: From body to brain [Groningen]: Rijksuniversiteit Groningen

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1 University of Groningen Phenylketonuria Mazzola, Priscila IMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite from it. Please check the document version below. Document Version Publisher's PDF, also known as Version of record Publication date: 2016 Link to publication in University of Groningen/UMCG research database Citation for published version (APA): Mazzola, P. (2016). Phenylketonuria: From body to brain [Groningen]: Rijksuniversiteit Groningen Copyright Other than for strictly personal use, it is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), unless the work is under an open content license (like Creative Commons). Take-down policy If you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediately and investigate your claim. Downloaded from the University of Groningen/UMCG research database (Pure): For technical reasons the number of authors shown on this cover page is limited to 10 maximum. Download date:

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3 Fenylketonurie: van lichaam tot brein In dit proefschrift worden de effecten van aërobe training op centrale en perifere markers in fenylketonurie (PKU) beschreven. Ons onderzoek, uitgevoerd met patiënten en in diermodellen van PKU, laat zien dat deze vorm van training therapeutische waarde kan zijn voor PKU-patiënten. PKU is de meest voorkomende aangeboren afwijking van aminozuurmetabolisme. PKU wordt gekaraketeriseerd door hoge concentraties fenylalanine in het bloed, dit leidt tot verstandelijke beperkingen wanneer de ziekte onbehandeld blijft. Op dit moment is de behandeling van PKU gericht op het verlagen van fenylalanine concentratie in het lichaam d.m.v. een eiwitarm dieet. Hoewel deze behandeling effectief is, is het dieet moeilijk vol te houden. Hierdoor vertonen patiënten vaak hoge percentages fenylalanine en bijbehorende cognitieve stoornissen. Additionele behandelingsstrategieën zijn dan ook van therapeutische waarde voor PKU patiënten, aërobe training is daarvoor een geschikte kandidaat. De studies in dit proefschrift laten zien dat in PKU diermodellen één trainingssessie voldoende is om tryptofaan concentraties te verbeteren in de hersenen. Regelmatige lichaamsbeweging corrigeerde oxidatieve stress, bijnier catecholamine inhoud en angst-gedrag. Deze verbeteringen werden bereikt zonder wijziging van fenylalanine concentraties, wat benadrukt dat deze aanpassingen als gevolg van aërobe training 168

4 zelfs plaats kunnen vinden wanneer er sprake is van hoge fenylalanine concentraties. In PKU patiënten heeft één enkele aërobe trainingssessie geen effect op fenylalanine niveaus, maar zorgt deze wel voor veranderingen in metabole parameters zoals ook waargenomen in de controlegroep. PKU patiënten verschillen op basaal niveau niet van de sekse-, leeftijds- en body mass-index gematchte controles in de kans op obesitas, lichaamssamenstelling, nutritional status, basaal metabolisme en maximale fysieke capaciteit. Tezamen laten deze studies zien dat aërobe training, wat betreft mogelijke wijzigingen in aminozuurconcentraties en metabole markers, een veilige behandelingsmethode is voor PKU patiënten. Daarnaast werden ondanks hoge fenylalaline niveaus trainingseffecten waargenomen. Dit laat zien dat gebruik van aerobe training als een (additionele) behandelingsstrategie in PKU patiënten mogelijk is. PKU patiënten moeten worden aangemoedigd om te sporten. 169

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