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class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Biokimika"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>Biokimika</span> </div> </a> <ul id="toc-Biokimika-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Genetika" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Genetika"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>Genetika</span> </div> </a> <ul id="toc-Genetika-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-PKU_maternala" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#PKU_maternala"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>PKU maternala</span> </div> </a> <ul id="toc-PKU_maternala-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Diagnostikoa_eta_tratamendua" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Diagnostikoa_eta_tratamendua"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>Diagnostikoa eta tratamendua</span> </div> </a> <ul id="toc-Diagnostikoa_eta_tratamendua-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Kanpo_estekak" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Kanpo_estekak"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>Kanpo estekak</span> </div> </a> <ul id="toc-Kanpo_estekak-sublist" class="vector-toc-list"> </ul> </li> </ul> </div> </div> </nav> </div> </div> <div class="mw-content-container"> <main id="content" class="mw-body"> <header class="mw-body-header vector-page-titlebar"> <nav aria-label="Edukiak" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" title="Eduki-taula" > <input type="checkbox" id="vector-page-titlebar-toc-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-titlebar-toc" class="vector-dropdown-checkbox " aria-label="Eduki taularen ikusgarritasuna aldatu" > <label id="vector-page-titlebar-toc-label" for="vector-page-titlebar-toc-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-listBullet mw-ui-icon-wikimedia-listBullet"></span> <span class="vector-dropdown-label-text">Eduki taularen ikusgarritasuna aldatu</span> </label> <div class="vector-dropdown-content"> <div id="vector-page-titlebar-toc-unpinned-container" class="vector-unpinned-container"> </div> </div> </div> </nav> <h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Fenilzetonuria</span></h1> <div id="p-lang-btn" class="vector-dropdown mw-portlet mw-portlet-lang" > <input type="checkbox" id="p-lang-btn-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-p-lang-btn" class="vector-dropdown-checkbox mw-interlanguage-selector" aria-label="Joan beste hizkuntza batean idatzitako artikulu batera. 54 hizkuntzatan eskuragarri." > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-54" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">54 hizkuntza</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D8%A8%D9%8A%D9%84%D8%A9_%D8%A7%D9%84%D9%81%D9%8A%D9%86%D9%8A%D9%84_%D9%83%D9%8A%D8%AA%D9%88%D9%86" title="بيلة الفينيل كيتون – arabiera" lang="ar" hreflang="ar" data-title="بيلة الفينيل كيتون" data-language-autonym="العربية" data-language-local-name="arabiera" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-az mw-list-item"><a href="https://az.wikipedia.org/wiki/Fenilketonuriya" title="Fenilketonuriya – azerbaijanera" lang="az" hreflang="az" data-title="Fenilketonuriya" data-language-autonym="Azərbaycanca" data-language-local-name="azerbaijanera" class="interlanguage-link-target"><span>Azərbaycanca</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Fenilketonurija" title="Fenilketonurija – bosniera" lang="bs" hreflang="bs" data-title="Fenilketonurija" data-language-autonym="Bosanski" data-language-local-name="bosniera" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/Fenilceton%C3%BAria" title="Fenilcetonúria – katalana" lang="ca" hreflang="ca" data-title="Fenilcetonúria" data-language-autonym="Català" data-language-local-name="katalana" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-ckb mw-list-item"><a href="https://ckb.wikipedia.org/wiki/%D9%81%DB%8C%D9%86%D8%A7%DA%B5%DA%A9%DB%95%D8%AA%D9%88%D9%86%D9%88%D8%B1%DB%8C%D8%A7" title="فیناڵکەتونوریا – erdialdeko kurduera" lang="ckb" hreflang="ckb" data-title="فیناڵکەتونوریا" data-language-autonym="کوردی" data-language-local-name="erdialdeko kurduera" class="interlanguage-link-target"><span>کوردی</span></a></li><li class="interlanguage-link interwiki-cs mw-list-item"><a href="https://cs.wikipedia.org/wiki/Fenylketonurie" title="Fenylketonurie – txekiera" lang="cs" hreflang="cs" data-title="Fenylketonurie" data-language-autonym="Čeština" data-language-local-name="txekiera" class="interlanguage-link-target"><span>Čeština</span></a></li><li class="interlanguage-link interwiki-cy mw-list-item"><a href="https://cy.wikipedia.org/wiki/Ffenylcetonwria" title="Ffenylcetonwria – galesa" lang="cy" hreflang="cy" data-title="Ffenylcetonwria" data-language-autonym="Cymraeg" data-language-local-name="galesa" class="interlanguage-link-target"><span>Cymraeg</span></a></li><li class="interlanguage-link interwiki-da mw-list-item"><a href="https://da.wikipedia.org/wiki/Fenylketonuri" title="Fenylketonuri – daniera" lang="da" hreflang="da" data-title="Fenylketonuri" data-language-autonym="Dansk" data-language-local-name="daniera" class="interlanguage-link-target"><span>Dansk</span></a></li><li class="interlanguage-link interwiki-de badge-Q17437798 badge-goodarticle mw-list-item" title="artikulu onak"><a href="https://de.wikipedia.org/wiki/Phenylketonurie" title="Phenylketonurie – alemana" lang="de" hreflang="de" data-title="Phenylketonurie" data-language-autonym="Deutsch" data-language-local-name="alemana" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-el mw-list-item"><a href="https://el.wikipedia.org/wiki/%CE%A6%CE%B1%CE%B9%CE%BD%CF%85%CE%BB%CE%BA%CE%B5%CF%84%CE%BF%CE%BD%CE%BF%CF%85%CF%81%CE%AF%CE%B1" title="Φαινυλκετονουρία – greziera" lang="el" hreflang="el" data-title="Φαινυλκετονουρία" data-language-autonym="Ελληνικά" data-language-local-name="greziera" class="interlanguage-link-target"><span>Ελληνικά</span></a></li><li class="interlanguage-link interwiki-en mw-list-item"><a href="https://en.wikipedia.org/wiki/Phenylketonuria" title="Phenylketonuria – ingelesa" lang="en" hreflang="en" data-title="Phenylketonuria" data-language-autonym="English" data-language-local-name="ingelesa" class="interlanguage-link-target"><span>English</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Fenilcetonuria" title="Fenilcetonuria – gaztelania" lang="es" hreflang="es" data-title="Fenilcetonuria" data-language-autonym="Español" data-language-local-name="gaztelania" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D9%81%D9%86%DB%8C%D9%84_%DA%A9%D8%AA%D9%88%D9%86%D9%88%D8%B1%DB%8C" title="فنیل کتونوری – persiera" lang="fa" hreflang="fa" data-title="فنیل کتونوری" data-language-autonym="فارسی" data-language-local-name="persiera" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Fenyyliketonuria" title="Fenyyliketonuria – finlandiera" lang="fi" hreflang="fi" data-title="Fenyyliketonuria" data-language-autonym="Suomi" data-language-local-name="finlandiera" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Ph%C3%A9nylc%C3%A9tonurie" title="Phénylcétonurie – frantsesa" lang="fr" hreflang="fr" data-title="Phénylcétonurie" data-language-autonym="Français" data-language-local-name="frantsesa" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-ga mw-list-item"><a href="https://ga.wikipedia.org/wiki/Feinilc%C3%A9at%C3%B3n%C3%BAire" title="Feinilcéatónúire – irlandera" lang="ga" hreflang="ga" data-title="Feinilcéatónúire" data-language-autonym="Gaeilge" data-language-local-name="irlandera" class="interlanguage-link-target"><span>Gaeilge</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/%D7%A4%D7%A0%D7%99%D7%9C%D7%A7%D7%98%D7%95%D7%A0%D7%95%D7%A8%D7%99%D7%94" title="פנילקטונוריה – hebreera" lang="he" hreflang="he" data-title="פנילקטונוריה" data-language-autonym="עברית" data-language-local-name="hebreera" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-hr mw-list-item"><a href="https://hr.wikipedia.org/wiki/Fenilketonurija" title="Fenilketonurija – kroaziera" lang="hr" hreflang="hr" data-title="Fenilketonurija" data-language-autonym="Hrvatski" data-language-local-name="kroaziera" class="interlanguage-link-target"><span>Hrvatski</span></a></li><li class="interlanguage-link interwiki-hu mw-list-item"><a href="https://hu.wikipedia.org/wiki/Fenilketonuria" title="Fenilketonuria – hungariera" lang="hu" hreflang="hu" data-title="Fenilketonuria" data-language-autonym="Magyar" data-language-local-name="hungariera" class="interlanguage-link-target"><span>Magyar</span></a></li><li class="interlanguage-link interwiki-hy mw-list-item"><a href="https://hy.wikipedia.org/wiki/%D5%96%D5%A5%D5%B6%D5%AB%D5%AC%D5%AF%D5%A5%D5%BF%D5%B8%D5%B6%D5%B8%D6%82%D6%80%D5%AB%D5%A1" title="Ֆենիլկետոնուրիա – armeniera" lang="hy" hreflang="hy" data-title="Ֆենիլկետոնուրիա" data-language-autonym="Հայերեն" data-language-local-name="armeniera" class="interlanguage-link-target"><span>Հայերեն</span></a></li><li class="interlanguage-link interwiki-id mw-list-item"><a href="https://id.wikipedia.org/wiki/Fenilketonuria" title="Fenilketonuria – indonesiera" lang="id" hreflang="id" data-title="Fenilketonuria" data-language-autonym="Bahasa Indonesia" data-language-local-name="indonesiera" class="interlanguage-link-target"><span>Bahasa Indonesia</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Fenilchetonuria" title="Fenilchetonuria – italiera" lang="it" hreflang="it" data-title="Fenilchetonuria" data-language-autonym="Italiano" data-language-local-name="italiera" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E3%83%95%E3%82%A7%E3%83%8B%E3%83%AB%E3%82%B1%E3%83%88%E3%83%B3%E5%B0%BF%E7%97%87" title="フェニルケトン尿症 – japoniera" lang="ja" hreflang="ja" data-title="フェニルケトン尿症" data-language-autonym="日本語" data-language-local-name="japoniera" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-ka mw-list-item"><a href="https://ka.wikipedia.org/wiki/%E1%83%A4%E1%83%94%E1%83%9C%E1%83%98%E1%83%9A%E1%83%99%E1%83%94%E1%83%A2%E1%83%9D%E1%83%9C%E1%83%A3%E1%83%A0%E1%83%98%E1%83%90" title="ფენილკეტონურია – georgiera" lang="ka" hreflang="ka" data-title="ფენილკეტონურია" data-language-autonym="ქართული" data-language-local-name="georgiera" class="interlanguage-link-target"><span>ქართული</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%ED%8E%98%EB%8B%90%EC%BC%80%ED%86%A4%EB%87%A8%EC%A6%9D" title="페닐케톤뇨증 – koreera" lang="ko" hreflang="ko" data-title="페닐케톤뇨증" data-language-autonym="한국어" data-language-local-name="koreera" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-ku mw-list-item"><a href="https://ku.wikipedia.org/wiki/Fen%C3%AElketonur%C3%AE" title="Fenîlketonurî – kurduera" lang="ku" hreflang="ku" data-title="Fenîlketonurî" data-language-autonym="Kurdî" data-language-local-name="kurduera" class="interlanguage-link-target"><span>Kurdî</span></a></li><li class="interlanguage-link interwiki-lt mw-list-item"><a href="https://lt.wikipedia.org/wiki/Fenilketonurija" title="Fenilketonurija – lituaniera" lang="lt" hreflang="lt" data-title="Fenilketonurija" data-language-autonym="Lietuvių" data-language-local-name="lituaniera" class="interlanguage-link-target"><span>Lietuvių</span></a></li><li class="interlanguage-link interwiki-lv mw-list-item"><a href="https://lv.wikipedia.org/wiki/Fenilketon%C5%ABrija" title="Fenilketonūrija – letoniera" lang="lv" hreflang="lv" data-title="Fenilketonūrija" data-language-autonym="Latviešu" data-language-local-name="letoniera" class="interlanguage-link-target"><span>Latviešu</span></a></li><li class="interlanguage-link interwiki-mk mw-list-item"><a href="https://mk.wikipedia.org/wiki/%D0%A4%D0%B5%D0%BD%D0%B8%D0%BB%D0%BA%D0%B5%D1%82%D0%BE%D0%BD%D1%83%D1%80%D0%B8%D1%98%D0%B0" title="Фенилкетонурија – mazedoniera" lang="mk" hreflang="mk" data-title="Фенилкетонурија" data-language-autonym="Македонски" data-language-local-name="mazedoniera" class="interlanguage-link-target"><span>Македонски</span></a></li><li class="interlanguage-link interwiki-ml mw-list-item"><a href="https://ml.wikipedia.org/wiki/%E0%B4%AB%E0%B4%BF%E0%B4%A8%E0%B5%88%E0%B5%BD%E0%B4%95%E0%B5%80%E0%B4%B1%E0%B5%8D%E0%B4%B1%E0%B5%8B%E0%B5%BA%E0%B4%AF%E0%B5%82%E0%B4%B1%E0%B4%BF%E0%B4%AF" title="ഫിനൈൽകീറ്റോൺയൂറിയ – malabarera" lang="ml" hreflang="ml" data-title="ഫിനൈൽകീറ്റോൺയൂറിയ" data-language-autonym="മലയാളം" data-language-local-name="malabarera" class="interlanguage-link-target"><span>മലയാളം</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Fenylketonurie" title="Fenylketonurie – nederlandera" lang="nl" hreflang="nl" data-title="Fenylketonurie" data-language-autonym="Nederlands" data-language-local-name="nederlandera" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-nn mw-list-item"><a href="https://nn.wikipedia.org/wiki/Fenylketonuri" title="Fenylketonuri – nynorsk (norvegiera)" lang="nn" hreflang="nn" data-title="Fenylketonuri" data-language-autonym="Norsk nynorsk" data-language-local-name="nynorsk (norvegiera)" class="interlanguage-link-target"><span>Norsk nynorsk</span></a></li><li class="interlanguage-link interwiki-no mw-list-item"><a href="https://no.wikipedia.org/wiki/Fenylketonuri" title="Fenylketonuri – bokmål (norvegiera)" lang="nb" hreflang="nb" data-title="Fenylketonuri" data-language-autonym="Norsk bokmål" data-language-local-name="bokmål (norvegiera)" class="interlanguage-link-target"><span>Norsk bokmål</span></a></li><li class="interlanguage-link interwiki-or mw-list-item"><a href="https://or.wikipedia.org/wiki/%E0%AC%AB%E0%AC%BF%E0%AC%A8%E0%AC%BE%E0%AC%87%E0%AC%B2%E0%AC%95%E0%AC%BF%E0%AC%9F%E0%AD%8B%E0%AC%A8%E0%AD%81%E0%AC%B0%E0%AC%BF%E0%AC%86" title="ଫିନାଇଲକିଟୋନୁରିଆ – oriya" lang="or" hreflang="or" data-title="ଫିନାଇଲକିଟୋନୁରିଆ" data-language-autonym="ଓଡ଼ିଆ" data-language-local-name="oriya" class="interlanguage-link-target"><span>ଓଡ଼ିଆ</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Fenyloketonuria" title="Fenyloketonuria – poloniera" lang="pl" hreflang="pl" data-title="Fenyloketonuria" data-language-autonym="Polski" data-language-local-name="poloniera" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-ps mw-list-item"><a href="https://ps.wikipedia.org/wiki/%D9%81%DB%90%D9%86%D8%A7%DB%8C%D9%84%E2%80%8C%DA%A9%DB%90%D8%AA%D9%88%D9%86%D9%88%D8%B1%DB%8C%D8%A7" title="فېنایل‌کېتونوریا – paxtunera" lang="ps" hreflang="ps" data-title="فېنایل‌کېتونوریا" data-language-autonym="پښتو" data-language-local-name="paxtunera" class="interlanguage-link-target"><span>پښتو</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/Fenilceton%C3%BAria" title="Fenilcetonúria – portugesa" lang="pt" hreflang="pt" data-title="Fenilcetonúria" data-language-autonym="Português" data-language-local-name="portugesa" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ro mw-list-item"><a href="https://ro.wikipedia.org/wiki/Fenilcetonurie" title="Fenilcetonurie – errumaniera" lang="ro" hreflang="ro" data-title="Fenilcetonurie" data-language-autonym="Română" data-language-local-name="errumaniera" class="interlanguage-link-target"><span>Română</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%A4%D0%B5%D0%BD%D0%B8%D0%BB%D0%BA%D0%B5%D1%82%D0%BE%D0%BD%D1%83%D1%80%D0%B8%D1%8F" title="Фенилкетонурия – errusiera" lang="ru" hreflang="ru" data-title="Фенилкетонурия" data-language-autonym="Русский" data-language-local-name="errusiera" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-sh mw-list-item"><a href="https://sh.wikipedia.org/wiki/Fenilketonurija" title="Fenilketonurija – serbokroaziera" lang="sh" hreflang="sh" data-title="Fenilketonurija" data-language-autonym="Srpskohrvatski / српскохрватски" data-language-local-name="serbokroaziera" class="interlanguage-link-target"><span>Srpskohrvatski / српскохрватски</span></a></li><li class="interlanguage-link interwiki-simple mw-list-item"><a href="https://simple.wikipedia.org/wiki/Phenylketonuria" title="Phenylketonuria – Simple English" lang="en-simple" hreflang="en-simple" data-title="Phenylketonuria" data-language-autonym="Simple English" data-language-local-name="Simple English" class="interlanguage-link-target"><span>Simple English</span></a></li><li class="interlanguage-link interwiki-sk mw-list-item"><a href="https://sk.wikipedia.org/wiki/Fenylketon%C3%BAria" title="Fenylketonúria – eslovakiera" lang="sk" hreflang="sk" data-title="Fenylketonúria" data-language-autonym="Slovenčina" data-language-local-name="eslovakiera" class="interlanguage-link-target"><span>Slovenčina</span></a></li><li class="interlanguage-link interwiki-sl mw-list-item"><a href="https://sl.wikipedia.org/wiki/Fenilketonurija" title="Fenilketonurija – esloveniera" lang="sl" hreflang="sl" data-title="Fenilketonurija" data-language-autonym="Slovenščina" data-language-local-name="esloveniera" class="interlanguage-link-target"><span>Slovenščina</span></a></li><li class="interlanguage-link interwiki-sq mw-list-item"><a href="https://sq.wikipedia.org/wiki/Fenilketonuria" title="Fenilketonuria – albaniera" lang="sq" hreflang="sq" data-title="Fenilketonuria" data-language-autonym="Shqip" data-language-local-name="albaniera" class="interlanguage-link-target"><span>Shqip</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/%D0%A4%D0%B5%D0%BD%D0%B8%D0%BB%D0%BA%D0%B5%D1%82%D0%BE%D0%BD%D1%83%D1%80%D0%B8%D1%98%D0%B0" title="Фенилкетонурија – serbiera" lang="sr" hreflang="sr" data-title="Фенилкетонурија" data-language-autonym="Српски / srpski" data-language-local-name="serbiera" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/Fenylketonuri" title="Fenylketonuri – suediera" lang="sv" hreflang="sv" data-title="Fenylketonuri" data-language-autonym="Svenska" data-language-local-name="suediera" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-ta mw-list-item"><a href="https://ta.wikipedia.org/wiki/%E0%AE%AA%E0%AE%BF%E0%AE%A9%E0%AF%88%E0%AE%B2%E0%AF%8D_%E0%AE%95%E0%AF%80%E0%AE%9F%E0%AF%8D%E0%AE%9F%E0%AF%8B%E0%AE%A9%E0%AF%8D_%E0%AE%95%E0%AE%B4%E0%AE%BF%E0%AE%B5%E0%AF%81" title="பினைல் கீட்டோன் கழிவு – tamilera" lang="ta" hreflang="ta" data-title="பினைல் கீட்டோன் கழிவு" data-language-autonym="தமிழ்" data-language-local-name="tamilera" class="interlanguage-link-target"><span>தமிழ்</span></a></li><li class="interlanguage-link interwiki-th mw-list-item"><a href="https://th.wikipedia.org/wiki/%E0%B8%9F%E0%B8%B5%E0%B8%99%E0%B8%B4%E0%B8%A5%E0%B8%84%E0%B8%B5%E0%B9%82%E0%B8%95%E0%B8%99%E0%B8%B9%E0%B9%80%E0%B8%A3%E0%B8%B5%E0%B8%A2" title="ฟีนิลคีโตนูเรีย – thailandiera" lang="th" hreflang="th" data-title="ฟีนิลคีโตนูเรีย" data-language-autonym="ไทย" data-language-local-name="thailandiera" class="interlanguage-link-target"><span>ไทย</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/Fenilketon%C3%BCri" title="Fenilketonüri – turkiera" lang="tr" hreflang="tr" data-title="Fenilketonüri" data-language-autonym="Türkçe" data-language-local-name="turkiera" class="interlanguage-link-target"><span>Türkçe</span></a></li><li class="interlanguage-link interwiki-uk mw-list-item"><a href="https://uk.wikipedia.org/wiki/%D0%A4%D0%B5%D0%BD%D1%96%D0%BB%D0%BA%D0%B5%D1%82%D0%BE%D0%BD%D1%83%D1%80%D1%96%D1%8F" title="Фенілкетонурія – ukrainera" lang="uk" hreflang="uk" data-title="Фенілкетонурія" data-language-autonym="Українська" data-language-local-name="ukrainera" class="interlanguage-link-target"><span>Українська</span></a></li><li class="interlanguage-link interwiki-uz mw-list-item"><a href="https://uz.wikipedia.org/wiki/Fenilketonuriya" title="Fenilketonuriya – uzbekera" lang="uz" hreflang="uz" data-title="Fenilketonuriya" data-language-autonym="Oʻzbekcha / ўзбекча" data-language-local-name="uzbekera" class="interlanguage-link-target"><span>Oʻzbekcha / ўзбекча</span></a></li><li class="interlanguage-link interwiki-vi mw-list-item"><a href="https://vi.wikipedia.org/wiki/B%E1%BB%87nh_Phenylketone_ni%E1%BB%87u" title="Bệnh Phenylketone niệu – vietnamera" lang="vi" hreflang="vi" data-title="Bệnh Phenylketone niệu" data-language-autonym="Tiếng Việt" data-language-local-name="vietnamera" class="interlanguage-link-target"><span>Tiếng Việt</span></a></li><li class="interlanguage-link interwiki-wa mw-list-item"><a href="https://wa.wikipedia.org/wiki/Fenilcetonureye" title="Fenilcetonureye – valoniera" lang="wa" hreflang="wa" data-title="Fenilcetonureye" data-language-autonym="Walon" data-language-local-name="valoniera" class="interlanguage-link-target"><span>Walon</span></a></li><li class="interlanguage-link interwiki-zh mw-list-item"><a href="https://zh.wikipedia.org/wiki/%E8%8B%AF%E4%B8%99%E9%85%AE%E5%B0%BF%E7%97%87" title="苯丙酮尿症 – txinera" lang="zh" hreflang="zh" data-title="苯丙酮尿症" data-language-autonym="中文" data-language-local-name="txinera" class="interlanguage-link-target"><span>中文</span></a></li> </ul> <div class="after-portlet after-portlet-lang"><span class="wb-langlinks-edit wb-langlinks-link"><a href="https://www.wikidata.org/wiki/Special:EntityPage/Q194041#sitelinks-wikipedia" title="Aldatu hizkuntzen arteko loturak" class="wbc-editpage">Aldatu loturak</a></span></div> </div> </div> </div> </header> <div class="vector-page-toolbar"> <div class="vector-page-toolbar-container"> <div id="left-navigation"> <nav aria-label="Izen-tarteak"> <div id="p-associated-pages" class="vector-menu vector-menu-tabs mw-portlet mw-portlet-associated-pages" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="ca-nstab-main" class="selected vector-tab-noicon mw-list-item"><a href="/wiki/Fenilzetonuria" title="Eduki orrialdea ikusi [c]" accesskey="c"><span>Artikulua</span></a></li><li id="ca-talk" class="new vector-tab-noicon mw-list-item"><a href="/w/index.php?title=Eztabaida:Fenilzetonuria&action=edit&redlink=1" rel="discussion" class="new" title="Artikuluari buruzko eztabaida (sortu gabe) [t]" accesskey="t"><span>Eztabaida</span></a></li> </ul> </div> </div> <div id="vector-variants-dropdown" class="vector-dropdown emptyPortlet" > <input type="checkbox" id="vector-variants-dropdown-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-variants-dropdown" class="vector-dropdown-checkbox " aria-label="Aldatu hizkuntza aldaera" > <label id="vector-variants-dropdown-label" for="vector-variants-dropdown-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet" aria-hidden="true" ><span class="vector-dropdown-label-text">euskara</span> </label> <div class="vector-dropdown-content"> <div id="p-variants" class="vector-menu mw-portlet mw-portlet-variants emptyPortlet" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> </ul> </div> </div> </div> </div> </nav> </div> <div id="right-navigation" class="vector-collapsible"> <nav aria-label="Ikusketak"> <div id="p-views" class="vector-menu vector-menu-tabs mw-portlet mw-portlet-views" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="ca-view" class="selected vector-tab-noicon mw-list-item"><a href="/wiki/Fenilzetonuria"><span>Irakurri</span></a></li><li id="ca-ve-edit" class="vector-tab-noicon mw-list-item"><a href="/w/index.php?title=Fenilzetonuria&veaction=edit" title="Orri hau aldatu [v]" accesskey="v"><span>Aldatu</span></a></li><li id="ca-edit" class="collapsible vector-tab-noicon mw-list-item"><a href="/w/index.php?title=Fenilzetonuria&action=edit" title="Idatzi orri honen iturburu kodea [e]" accesskey="e"><span>Aldatu iturburu kodea</span></a></li><li id="ca-history" class="vector-tab-noicon mw-list-item"><a href="/w/index.php?title=Fenilzetonuria&action=history" title="Artikulu honen aurreko bertsioak. 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href="/wiki/Berezi:ZerkLotzenDuHona/Fenilzetonuria" title="Orri honetaranzko esteka duten wiki orri guztien zerrenda [j]" accesskey="j"><span>Honanzko esteka duten orriak</span></a></li><li id="t-recentchangeslinked" class="mw-list-item"><a href="/wiki/Berezi:RecentChangesLinked/Fenilzetonuria" rel="nofollow" title="Orri honetatik esteka duten orrietako azken aldaketak [k]" accesskey="k"><span>Lotutako orrietako aldaketak</span></a></li><li id="t-upload" class="mw-list-item"><a href="//commons.wikimedia.org/wiki/Special:UploadWizard?uselang=eu" title="Irudiak edo media fitxategiak igo [u]" accesskey="u"><span>Fitxategia igo</span></a></li><li id="t-permalink" class="mw-list-item"><a href="/w/index.php?title=Fenilzetonuria&oldid=8031740" title="Orriaren bertsio honetaranzko esteka iraunkorra"><span>Lotura iraunkorra</span></a></li><li id="t-info" class="mw-list-item"><a href="/w/index.php?title=Fenilzetonuria&action=info" title="Orrialde honi buruzko informazio gehiago"><span>Orri honen datuak</span></a></li><li id="t-cite" class="mw-list-item"><a href="/w/index.php?title=Berezi:CiteThisPage&page=Fenilzetonuria&id=8031740&wpFormIdentifier=titleform" title="Orri honen aipua egiteko moduari buruzko informazioa"><span>Artikulu hau aipatu</span></a></li><li id="t-urlshortener" class="mw-list-item"><a href="/w/index.php?title=Berezi:UrlShortener&url=https%3A%2F%2Feu.wikipedia.org%2Fwiki%2FFenilzetonuria"><span>URL laburra lortu</span></a></li><li id="t-urlshortener-qrcode" class="mw-list-item"><a href="/w/index.php?title=Berezi:QrCode&url=https%3A%2F%2Feu.wikipedia.org%2Fwiki%2FFenilzetonuria"><span>QR kodea jaitsi</span></a></li> </ul> </div> </div> <div id="p-coll-print_export" class="vector-menu mw-portlet mw-portlet-coll-print_export" > <div class="vector-menu-heading"> Inprimatu/esportatu </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="coll-create_a_book" class="mw-list-item"><a href="/w/index.php?title=Berezi:Book&bookcmd=book_creator&referer=Fenilzetonuria"><span>Liburu bat sortu</span></a></li><li id="coll-download-as-rl" class="mw-list-item"><a href="/w/index.php?title=Berezi:DownloadAsPdf&page=Fenilzetonuria&action=show-download-screen"><span>Deskargatu PDF formatuan</span></a></li><li id="t-print" class="mw-list-item"><a href="/w/index.php?title=Fenilzetonuria&printable=yes" title="Orrialde honen bertsio inprimagarria [p]" accesskey="p"><span>Inprimatzeko bertsioa</span></a></li> </ul> </div> </div> <div id="p-wikibase-otherprojects" class="vector-menu mw-portlet mw-portlet-wikibase-otherprojects" > <div class="vector-menu-heading"> Beste proiektuetan </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="wb-otherproject-link wb-otherproject-commons mw-list-item"><a href="https://commons.wikimedia.org/wiki/Category:Phenylketonuria" hreflang="en"><span>Wikimedia Commons</span></a></li><li id="t-wikibase" class="wb-otherproject-link wb-otherproject-wikibase-dataitem mw-list-item"><a href="https://www.wikidata.org/wiki/Special:EntityPage/Q194041" title="Datuen biltegi elementu batera lotuta [g]" accesskey="g"><span>Wikidata itema</span></a></li> </ul> </div> </div> </div> </div> </div> </div> </nav> </div> </div> </div> <div class="vector-column-end"> <div class="vector-sticky-pinned-container"> <nav class="vector-page-tools-landmark" aria-label="Page tools"> <div id="vector-page-tools-pinned-container" class="vector-pinned-container"> </div> </nav> <nav class="vector-appearance-landmark" aria-label="Itxura"> <div id="vector-appearance-pinned-container" class="vector-pinned-container"> <div id="vector-appearance" class="vector-appearance vector-pinnable-element"> <div class="vector-pinnable-header vector-appearance-pinnable-header vector-pinnable-header-pinned" data-feature-name="appearance-pinned" data-pinnable-element-id="vector-appearance" 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dir="ltr"><dl><dd><figure class="mw-halign-left" typeof="mw:File"><a href="/wiki/Fitxategi:Star_of_life_caution.svg" class="mw-file-description" title="Ohar medikoa"><img alt="Ohar medikoa" src="//upload.wikimedia.org/wikipedia/commons/thumb/d/d5/Star_of_life_caution.svg/20px-Star_of_life_caution.svg.png" decoding="async" width="20" height="18" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/d/d5/Star_of_life_caution.svg/30px-Star_of_life_caution.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/d/d5/Star_of_life_caution.svg/40px-Star_of_life_caution.svg.png 2x" data-file-width="210" data-file-height="190" /></a><figcaption>Ohar medikoa</figcaption></figure> <b>Oharra: <a href="/wiki/Wikipedia:Mediku_oharra" title="Wikipedia:Mediku oharra">Wikipediak ez du mediku aholkurik ematen</a></b>. <i>Tratamendua behar duzula uste baduzu, jo ezazu sendagilearengana.</i><br clear="left" /></dd></dl> <table class="infobox" style="width:22em"><tbody><tr><th colspan="2" style="text-align:center;font-size:125%;font-weight:bold;background-color: lightgrey;">Fenilzetonuria</th></tr><tr><td colspan="2" class="infobox-full-data infobox-data" style="text-align:center"><span typeof="mw:File"><a href="/wiki/Fitxategi:Phenylketonuria_testing.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/1/16/Phenylketonuria_testing.jpg/260px-Phenylketonuria_testing.jpg" decoding="async" width="260" height="144" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/1/16/Phenylketonuria_testing.jpg/390px-Phenylketonuria_testing.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/1/16/Phenylketonuria_testing.jpg/520px-Phenylketonuria_testing.jpg 2x" data-file-width="2823" data-file-height="1563" /></a></span></td></tr><tr><th colspan="2" class="infobox-header" style="text-align:center;background-color: lightgrey;">Deskribapena</th></tr><tr><th scope="row" class="infobox-label" style="text-align:left">Mota</th><td class="infobox-data"><a href="/w/index.php?title=Entzimopatia&action=edit&redlink=1" class="new" title="Entzimopatia (sortu gabe)">entzimopatia</a>, <a href="/w/index.php?title=Hyperphenylalaninemia&action=edit&redlink=1" class="new" title="Hyperphenylalaninemia (sortu gabe)">hyperphenylalaninemia</a> <sup>(en)</sup> <span class="mw-valign-baseline skin-invert" typeof="mw:File"><a href="https://www.wikidata.org/wiki/Q5898279?uselang=eu"><img alt="Itzuli" src="//upload.wikimedia.org/wikipedia/commons/thumb/7/70/Noun_Project_label_icon_1116097_cc_mirror.svg/10px-Noun_Project_label_icon_1116097_cc_mirror.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/7/70/Noun_Project_label_icon_1116097_cc_mirror.svg/15px-Noun_Project_label_icon_1116097_cc_mirror.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/7/70/Noun_Project_label_icon_1116097_cc_mirror.svg/20px-Noun_Project_label_icon_1116097_cc_mirror.svg.png 2x" data-file-width="158" data-file-height="161" /></a></span>, <a href="/w/index.php?title=Amino_acid_metabolic_disorder&action=edit&redlink=1" class="new" title="Amino acid metabolic disorder (sortu gabe)">amino acid metabolic disorder</a> <sup>(en)</sup> <span class="mw-valign-baseline skin-invert" typeof="mw:File"><a href="https://www.wikidata.org/wiki/Q18558086?uselang=eu"><img alt="Itzuli" src="//upload.wikimedia.org/wikipedia/commons/thumb/7/70/Noun_Project_label_icon_1116097_cc_mirror.svg/10px-Noun_Project_label_icon_1116097_cc_mirror.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/7/70/Noun_Project_label_icon_1116097_cc_mirror.svg/15px-Noun_Project_label_icon_1116097_cc_mirror.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/7/70/Noun_Project_label_icon_1116097_cc_mirror.svg/20px-Noun_Project_label_icon_1116097_cc_mirror.svg.png 2x" data-file-width="158" data-file-height="161" /></a></span><br /><a href="/wiki/Eritasun" title="Eritasun">eritasuna</a></td></tr><tr><th scope="row" class="infobox-label" style="text-align:left">Espezialitatea</th><td class="infobox-data"><a href="/wiki/Endokrinologia" title="Endokrinologia">endokrinologia</a></td></tr><tr><th scope="row" class="infobox-label" style="text-align:left">Asoziazio genetikoa</th><td class="infobox-data"><div class="NavFrame collapsed" style="border: none; padding: 0;"> <div class="NavHead" style="font-size: 105%; background: transparent; text-align: left;">Zerrenda</div> <ul class="NavContent" style="list-style: none none; margin-left: 0; text-align: left; font-size: 105%; margin-top: 0; margin-bottom: 0; line-height: inherit;"><li style="line-height: inherit; margin: 0"><a href="/wiki/PAH" class="mw-redirect" title="PAH">PAH</a> <sup>(en)</sup> <span class="mw-valign-baseline skin-invert" typeof="mw:File"><a href="https://www.wikidata.org/wiki/Q14851781?uselang=eu"><img alt="Itzuli" src="//upload.wikimedia.org/wikipedia/commons/thumb/7/70/Noun_Project_label_icon_1116097_cc_mirror.svg/10px-Noun_Project_label_icon_1116097_cc_mirror.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/7/70/Noun_Project_label_icon_1116097_cc_mirror.svg/15px-Noun_Project_label_icon_1116097_cc_mirror.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/7/70/Noun_Project_label_icon_1116097_cc_mirror.svg/20px-Noun_Project_label_icon_1116097_cc_mirror.svg.png 2x" data-file-width="158" data-file-height="161" /></a></span></li></ul> </div></td></tr><tr><th colspan="2" class="infobox-header" style="text-align:center;background-color: lightgrey;">Identifikatzaileak</th></tr><tr><th scope="row" class="infobox-label" style="text-align:left"><a href="/wiki/Gaixotasunen_Nazioarteko_Sailkapena" title="Gaixotasunen Nazioarteko Sailkapena">GNS</a>-<a href="/w/index.php?title=GNS-9-MK_kodeen_zerrenda&action=edit&redlink=1" class="new" title="GNS-9-MK kodeen zerrenda (sortu gabe)">9-MK</a></th><td class="infobox-data"><a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=270.1">270.1</a></td></tr><tr><th scope="row" class="infobox-label" style="text-align:left"><a href="/wiki/Gaixotasunen_Nazioarteko_Sailkapena" title="Gaixotasunen Nazioarteko Sailkapena">GNS</a>-<a href="/wiki/GNS-10" title="GNS-10">10</a></th><td class="infobox-data"><a rel="nofollow" class="external text" href="http://apps.who.int/classifications/icd10/browse/2010/en#/E70.0">E70.0</a></td></tr><tr><th scope="row" class="infobox-label" style="text-align:left"><a href="/wiki/OMIM" class="mw-redirect" title="OMIM">OMIM</a></th><td class="infobox-data"><a rel="nofollow" class="external text" href="https://omim.org/entry/261600">261600</a></td></tr><tr><th scope="row" class="infobox-label" style="text-align:left"><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a></th><td class="infobox-data"><a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb9987.htm">9987</a></td></tr><tr><th scope="row" class="infobox-label" style="text-align:left"><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a></th><td class="infobox-data"><a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/001166.htm">001166</a></td></tr><tr><th scope="row" class="infobox-label" style="text-align:left"><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a></th><td class="infobox-data"><a rel="nofollow" class="external text" href="http://emedicine.medscape.com/article/001166">001166</a></td></tr><tr><th scope="row" class="infobox-label" style="text-align:left"><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></th><td class="infobox-data"><a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/#/record/ui?ui=D010661">D010661</a></td></tr><tr><th scope="row" class="infobox-label" style="text-align:left"><a href="/w/index.php?title=Disease_Ontology_ID&action=edit&redlink=1" class="new" title="Disease Ontology ID (sortu gabe)">Disease Ontology ID</a></th><td class="infobox-data"><a rel="nofollow" class="external text" href="http://disease-ontology.org/term/DOID:9281">DOID:9281</a></td></tr></tbody></table> <p><b>Fenilzetonuria</b> <a href="/wiki/Metabolismo" title="Metabolismo">metabolismoaren</a> jaiotzetiko gaixotasun genetikoa da, <a href="/wiki/Autosomiko" class="mw-redirect" title="Autosomiko">autosomiko</a> eta <a href="/wiki/Alelo_azpirakor" class="mw-redirect" title="Alelo azpirakor">azpirakorrarena</a>. Akatsa <a href="/w/index.php?title=Fenilalanina_hidroxilasa&action=edit&redlink=1" class="new" title="Fenilalanina hidroxilasa (sortu gabe)">fenilalanina hidroxilasa</a> (PAH) <a href="/wiki/Entzima" title="Entzima">entzimaren</a> defizientzia batean datza. Honen ondorioz <a href="/wiki/Fenilalanina" title="Fenilalanina">fenilalanina</a> ez da metabolizatzen eta gorputzean metatzen da atzerapen mental bat eraginez. Oso goiz detektatzea ezinbestekoa da tratamendua eraginkorra izateko eta sintomak saihesteko. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Historia">Historia</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilzetonuria&veaction=edit&section=1" title="Aldatu atal hau: «Historia»" class="mw-editsection-visualeditor"><span>aldatu</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilzetonuria&action=edit&section=1" title="Edit section's source code: Historia"><span>aldatu iturburu kodea</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/1934" title="1934">1934an</a> Fölling doktoreak fenilalanina inplikatuta zegoen gaixotasun metaboliko bat aurkitu zuen non arazo neurologiko larriak sortzen ziren. <a href="/w/index.php?title=Imbecillitas_phenylpyruvica&action=edit&redlink=1" class="new" title="Imbecillitas phenylpyruvica (sortu gabe)">Imbecillitas phenylpyruvica</a> deitu zuen. Urte batzuk beranduago Jervisek, gaixotasuna ikertu ondoren, akatsa fenilalaninaren metabolismoan zegoela ondorioztatu zuen, PAH entziman hain zuzen ere. <a href="/wiki/1980ko_hamarkada" title="1980ko hamarkada">1980ko hamarkadan</a> entzimaren genea aurkitu eta isolatu zen. </p> <div class="mw-heading mw-heading2"><h2 id="Fenotipoa">Fenotipoa</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilzetonuria&veaction=edit&section=2" title="Aldatu atal hau: «Fenotipoa»" class="mw-editsection-visualeditor"><span>aldatu</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilzetonuria&action=edit&section=2" title="Edit section's source code: Fenotipoa"><span>aldatu iturburu kodea</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Gaixotasunaren sintoma nagusia <a href="/w/index.php?title=Atzerapen_mental&action=edit&redlink=1" class="new" title="Atzerapen mental (sortu gabe)">atzerapen mentala</a> da, larritasun aldakorrekoa. Ezaugarri fisikoei dagokionez ez dira oso nabariak baina oro har arazo neuromotoreak, pigmentazio arazoak, usain berezia... dituzte. </p><p>Hasieran haurrak normalak dira jaiotzaren momenturaino amak bere metabolismoaz arduratu delako baina 1 urterekin atzerapen mentala ikuskor eta atzeraezina da </p> <div class="mw-heading mw-heading2"><h2 id="Biokimika">Biokimika</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilzetonuria&veaction=edit&section=3" title="Aldatu atal hau: «Biokimika»" class="mw-editsection-visualeditor"><span>aldatu</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilzetonuria&action=edit&section=3" title="Edit section's source code: Biokimika"><span>aldatu iturburu kodea</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Fenilalaninaren metabolismo normalean PAH entzimak fenilalanina <a href="/wiki/Tirosina" title="Tirosina">tirosina</a> bihurtzen du <a href="/w/index.php?title=Tetrahidrobiopterina&action=edit&redlink=1" class="new" title="Tetrahidrobiopterina (sortu gabe)">tetrahidrobiopterina</a> (BH4) kofaktorea <a href="/wiki/Erredox_erreakzio" title="Erredox erreakzio">oxidatuz</a>. Hau <a href="/wiki/Gibel" title="Gibel">gibelan</a> gertatzen da. Bide normala blokeatzen bada fenilalanina <a href="/wiki/Odol" title="Odol">odolean</a> eta beste ehun batzuetan metatuko da (<a href="/w/index.php?title=Hiperfenilalanemia&action=edit&redlink=1" class="new" title="Hiperfenilalanemia (sortu gabe)">hiperfenilalanemia</a>) baina honetaz gain bide metaboliko sekundario batzuk aktibatuko dira zeinen metabolitoak (<a href="/w/index.php?title=Azido_fenilpirubikoa&action=edit&redlink=1" class="new" title="Azido fenilpirubikoa (sortu gabe)">azido fenilpirubikoa</a>...) <a href="/w/index.php?title=Txis&action=edit&redlink=1" class="new" title="Txis (sortu gabe)">txisan</a> aurkituko diren. </p><p>Bide normala blokeatuta egoteko bi arrazoi daude: </p> <ul><li>PAHren urritasuna (aktibitate ia nulua, <a href="/w/index.php?title=Entzimopatia&action=edit&redlink=1" class="new" title="Entzimopatia (sortu gabe)">entzimopatia</a>)</li> <li>BH4 berriz erabiltzeko erreduzitzen duen entzimaren (<a href="/w/index.php?title=Dihidrobiopterina_erreduktasa&action=edit&redlink=1" class="new" title="Dihidrobiopterina erreduktasa (sortu gabe)">dihidrobiopterina erreduktasa</a>, DHPR) akatsa</li></ul> <div class="mw-heading mw-heading2"><h2 id="Genetika">Genetika</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilzetonuria&veaction=edit&section=4" title="Aldatu atal hau: «Genetika»" class="mw-editsection-visualeditor"><span>aldatu</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilzetonuria&action=edit&section=4" title="Edit section's source code: Genetika"><span>aldatu iturburu kodea</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Gaixotasun autosomiko eta azpirakorra denez gutxienez bi gurasoak eramaileak izan behar dira haurra gaixoa izateko (de novo <a href="/wiki/Mutazio" title="Mutazio">mutazioak</a> oso arraroak). 1/10000ko intzidentzia dauka baina hau aldatzen da eskualdeen arabera. </p><p>PKUren gene eragileak bi dira: </p> <ul><li>PAH entzima: (12q22-q24.1) Nahiko handia (90Kb, hauetatik 2.4Kb kodetzaileak) da eta 524 mutazio desberdin ezagutzen dira, gehienak missense eta delezioak</li> <li>DHPR entzima: (4p15.31)</li></ul> <p>Gaixotasun bera sortzeko gene bat baino gehiago daudenez geneen arteko elkarrekintzak gerta daitezke. Horrela posiblea da bi gurasoak gaixo izanda haur guztiak normalak izatea: guraso bakoitzak gen bat mutatua duenez haurrak bi geneekiko heterozigotoak izango dira baina ez gaixoak. </p> <div class="mw-heading mw-heading2"><h2 id="PKU_maternala">PKU maternala</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilzetonuria&veaction=edit&section=5" title="Aldatu atal hau: «PKU maternala»" class="mw-editsection-visualeditor"><span>aldatu</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilzetonuria&action=edit&section=5" title="Edit section's source code: PKU maternala"><span>aldatu iturburu kodea</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Emakume" title="Emakume">Emakume</a> fenilzetonuriko bat haurdun geratzean nahiz eta fetua genetikoki osasuntsu izan fenilalanina kontzentrazio altuko ingurune batean garatzen denez PKU antzeko fenotipo bat garatzen du (atzerapen mentala, <a href="/wiki/Mikrozefalia" title="Mikrozefalia">mikrozefalia</a>…). Arazo hau konpontzeko haurdunaldia hasi baino 3 hilabete lehenago amari dieta berezi bat jartzen zaio fenilalanina maila jaisteko eta modu honetan haurra osasuntsu jaiotzeko. </p> <div class="mw-heading mw-heading2"><h2 id="Diagnostikoa_eta_tratamendua">Diagnostikoa eta tratamendua</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilzetonuria&veaction=edit&section=6" title="Aldatu atal hau: «Diagnostikoa eta tratamendua»" class="mw-editsection-visualeditor"><span>aldatu</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilzetonuria&action=edit&section=6" title="Edit section's source code: Diagnostikoa eta tratamendua"><span>aldatu iturburu kodea</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size mw-halign-right" typeof="mw:File/Thumb"><a href="/wiki/Fitxategi:Phenylketonuria_testing.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/1/16/Phenylketonuria_testing.jpg/220px-Phenylketonuria_testing.jpg" decoding="async" width="220" height="122" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/1/16/Phenylketonuria_testing.jpg/330px-Phenylketonuria_testing.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/1/16/Phenylketonuria_testing.jpg/440px-Phenylketonuria_testing.jpg 2x" data-file-width="2823" data-file-height="1563" /></a><figcaption>Bi asteko ume bati <a href="/wiki/Odol" title="Odol">odol</a> lagina hartzen, fenilzetonuria testa egiteko.</figcaption></figure> <p>Diagnostiko goiztiarra oso garrantzitsua da sintomatologia guztia, batez ere atzerapen mentala, ekidin ahal delako bizitzako lehenengo egunetan tratatzen bada. Horretarako jaioberri guztiei <a href="/w/index.php?title=Guthrie_proba&action=edit&redlink=1" class="new" title="Guthrie proba (sortu gabe)">Guthrie proba</a> egiten zaie: <a href="/wiki/Orpo" title="Orpo">orpotik</a> odol pixka bat ateratzen zaie fenilalanina mailak neurtzeko. Proba positiboa izatekotan umeari tratamenduan jartzen zaio, fenilalanina baxuko dieta batean datzana. </p> <div class="mw-heading mw-heading2"><h2 id="Kanpo_estekak">Kanpo estekak</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilzetonuria&veaction=edit&section=7" title="Aldatu atal hau: «Kanpo estekak»" class="mw-editsection-visualeditor"><span>aldatu</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilzetonuria&action=edit&section=7" title="Edit section's source code: Kanpo estekak"><span>aldatu iturburu kodea</span></a><span class="mw-editsection-bracket">]</span></span></div> <div style="clear:both;"></div><style data-mw-deduplicate="TemplateStyles:r7786466">.mw-parser-output .mw-authority-control{margin-top:1.5em}.mw-parser-output .mw-authority-control .navbox hr:last-child{display:none}.mw-parser-output .mw-authority-control 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dl,.mw-parser-output .navbox td.hlist ol,.mw-parser-output .navbox td.hlist ul{padding:0.125em 0}.mw-parser-output .navbox .navbar{display:block;font-size:100%}.mw-parser-output .navbox-title .navbar{float:left;text-align:left;margin-right:0.5em}</style></div><div role="navigation" class="navbox" aria-labelledby="Autoritate_kontrola" style="width: inherit;padding:3px"><table class="nowraplinks hlist navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th id="Autoritate_kontrola" scope="row" class="navbox-group" style="width:1%;width: 12%; text-align:center;"><a href="/wiki/Laguntza:Autoritate_kontrola" title="Laguntza:Autoritate kontrola">Autoritate kontrola</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><b>Wikimedia proiektuak</b></li> <li><span style="white-space:nowrap;"><span typeof="mw:File"><a href="/wiki/Wikidata" title="Wikidata"><img alt="Wd" src="//upload.wikimedia.org/wikipedia/commons/thumb/f/ff/Wikidata-logo.svg/20px-Wikidata-logo.svg.png" decoding="async" width="20" height="11" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/f/ff/Wikidata-logo.svg/30px-Wikidata-logo.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/f/ff/Wikidata-logo.svg/40px-Wikidata-logo.svg.png 2x" data-file-width="1050" data-file-height="590" /></a></span> Datuak:</span> <span class="uid"><a href="https://www.wikidata.org/wiki/Q194041" class="extiw" title="wikidata:Q194041">Q194041</a></span></li> <li><span style="white-space:nowrap;"><span typeof="mw:File"><a href="/wiki/Wikimedia_Commons" title="Commonscat"><img alt="Commonscat" src="//upload.wikimedia.org/wikipedia/commons/thumb/4/4a/Commons-logo.svg/15px-Commons-logo.svg.png" decoding="async" width="15" height="20" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/4a/Commons-logo.svg/23px-Commons-logo.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/4a/Commons-logo.svg/30px-Commons-logo.svg.png 2x" data-file-width="1024" data-file-height="1376" /></a></span> Multimedia:</span> <span class="uid"><span class="plainlinks"><a class="external text" href="https://commons.wikimedia.org/wiki/Category:Phenylketonuria">Phenylketonuria</a></span> / <span class="plainlinks"><a class="external text" href="https://commons.wikimedia.org/wiki/Special:MediaSearch?type=image&search=%22Q194041%22">Q194041</a></span></span></li></ul> <hr /> <ul><li><b>Identifikadoreak</b></li> <li><span style="white-space:nowrap;"><a href="/wiki/National_Library_of_the_Czech_Republic" class="mw-redirect" title="National Library of the Czech Republic">NKC</a>:</span> <span class="uid"><a rel="nofollow" class="external text" href="https://aleph.nkp.cz/F/?func=find-c&local_base=aut&ccl_term=ica=ph120164">ph120164</a></span></li> <li><b>Hiztegiak eta entziklopediak</b></li> <li><span style="white-space:nowrap;"><a href="/wiki/Encyclop%C3%A6dia_Britannica" title="Encyclopædia Britannica">Britannica</a>:</span> <span class="uid"><a rel="nofollow" class="external text" href="https://www.britannica.com/science/phenylketonuria">url</a></span></li> <li><b>Medikuntzako identifikadoreak</b></li> <li><span style="white-space:nowrap;">DOID:</span> <span class="uid"><a rel="nofollow" class="external text" href="http://www.disease-ontology.org/?id=DOID:9281">DOID:9281</a></span></li> <li><span style="white-space:nowrap;"><a href="/w/index.php?title=CIE-9&action=edit&redlink=1" class="new" title="CIE-9 (sortu gabe)">CIE-9</a>:</span> <span class="uid"><a rel="nofollow" class="external text" href="http://icd9cm.chrisendres.com/index.php?action=search&srchtext=270.1">270.1</a></span></li> <li><span style="white-space:nowrap;"><a href="/wiki/Mendelian_Inheritance_in_Man" class="mw-redirect" title="Mendelian Inheritance in Man">OMIM</a>:</span> <span class="uid"><a rel="nofollow" class="external text" href="https://omim.org/entry/261600">261600</a></span></li> <li><span style="white-space:nowrap;"><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a>:</span> <span class="uid"><a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb9987.htm">9987</a></span></li> <li><span style="white-space:nowrap;"><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a>:</span> <span class="uid"><a rel="nofollow" class="external text" href="https://medlineplus.gov/spanish/ency/article/001166.htm">001166</a></span></li> <li><span style="white-space:nowrap;"><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a>:</span> <span class="uid"><a rel="nofollow" class="external text" href="https://emedicine.medscape.com/article/947781-overview">947781</a></span></li> <li><span style="white-space:nowrap;"><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a>:</span> <span class="uid"><a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D010661">D010661</a></span></li> <li><span style="white-space:nowrap;"><a href="/w/index.php?title=Orphanet&action=edit&redlink=1" class="new" title="Orphanet (sortu gabe)">Orphanet</a>:</span> <span class="uid"><a rel="nofollow" class="external text" href="https://www.orpha.net/en/disease/detail/716">716</a></span></li> <li><b>Kimikako identifikadoreak</b></li> <li><span style="white-space:nowrap;"><a href="/w/index.php?title=KEGG&action=edit&redlink=1" class="new" title="KEGG (sortu gabe)">KEGG</a>:</span> <span class="uid"><a rel="nofollow" class="external text" href="https://www.kegg.jp/entry/H00167">H00167</a></span></li></ul> </div></td></tr></tbody></table></div><div class="mw-mf-linked-projects hlist"> <ul><li><span style="white-space:nowrap;"><span typeof="mw:File"><a href="/wiki/Wikidata" title="Wikidata"><img alt="Wd" src="//upload.wikimedia.org/wikipedia/commons/thumb/f/ff/Wikidata-logo.svg/20px-Wikidata-logo.svg.png" decoding="async" width="20" height="11" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/f/ff/Wikidata-logo.svg/30px-Wikidata-logo.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/f/ff/Wikidata-logo.svg/40px-Wikidata-logo.svg.png 2x" data-file-width="1050" data-file-height="590" /></a></span> Datuak:</span> <span class="uid"><a href="https://www.wikidata.org/wiki/Q194041" class="extiw" title="wikidata:Q194041">Q194041</a></span></li> <li><span style="white-space:nowrap;"><span typeof="mw:File"><a href="/wiki/Wikimedia_Commons" title="Commonscat"><img alt="Commonscat" src="//upload.wikimedia.org/wikipedia/commons/thumb/4/4a/Commons-logo.svg/15px-Commons-logo.svg.png" decoding="async" width="15" height="20" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/4a/Commons-logo.svg/23px-Commons-logo.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/4a/Commons-logo.svg/30px-Commons-logo.svg.png 2x" data-file-width="1024" data-file-height="1376" /></a></span> Multimedia:</span> <span class="uid"><span class="plainlinks"><a class="external text" href="https://commons.wikimedia.org/wiki/Category:Phenylketonuria">Phenylketonuria</a></span> / <span class="plainlinks"><a class="external text" href="https://commons.wikimedia.org/wiki/Special:MediaSearch?type=image&search=%22Q194041%22">Q194041</a></span></span></li></ul> </div></div>    </div><script>(RLQ=window.RLQ||[]).push(function(){mw.log.warn("Gadget \"ErrefAurrebista\" was not loaded. 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