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href="/w/index.php?title=Speciale:Entra&returnto=Fenilchetonuria" title="Si consiglia di effettuare l'accesso, anche se non è obbligatorio [o]" accesskey="o" class=""><span>entra</span></a> </li> </ul> </div> </div> </div> <div id="vector-user-links-dropdown" class="vector-dropdown vector-user-menu vector-button-flush-right vector-user-menu-logged-out" title="Altre opzioni" > <input type="checkbox" id="vector-user-links-dropdown-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-user-links-dropdown" class="vector-dropdown-checkbox " aria-label="Strumenti personali" > <label id="vector-user-links-dropdown-label" for="vector-user-links-dropdown-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-ellipsis mw-ui-icon-wikimedia-ellipsis"></span> <span class="vector-dropdown-label-text">Strumenti 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class="vector-toc-link" href="#Storia"> <div class="vector-toc-text"> <span class="vector-toc-numb">2</span> <span>Storia</span> </div> </a> <ul id="toc-Storia-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Eziopatogenesi" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Eziopatogenesi"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>Eziopatogenesi</span> </div> </a> <ul id="toc-Eziopatogenesi-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Sintomatologia" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Sintomatologia"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>Sintomatologia</span> </div> </a> <ul id="toc-Sintomatologia-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Diagnosi" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Diagnosi"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>Diagnosi</span> </div> </a> <ul id="toc-Diagnosi-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Terapia_e_profilassi" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Terapia_e_profilassi"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>Terapia e profilassi</span> </div> </a> <ul id="toc-Terapia_e_profilassi-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-PKU_e_gravidanza" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#PKU_e_gravidanza"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>PKU e gravidanza</span> </div> </a> <ul id="toc-PKU_e_gravidanza-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Note" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Note"> <div class="vector-toc-text"> <span class="vector-toc-numb">8</span> <span>Note</span> </div> </a> <ul id="toc-Note-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Altri_progetti" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Altri_progetti"> <div class="vector-toc-text"> <span class="vector-toc-numb">9</span> <span>Altri progetti</span> </div> </a> <ul id="toc-Altri_progetti-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Collegamenti_esterni" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Collegamenti_esterni"> <div class="vector-toc-text"> <span class="vector-toc-numb">10</span> <span>Collegamenti esterni</span> </div> </a> <ul id="toc-Collegamenti_esterni-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="Indice" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" title="Indice" > <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="Mostra/Nascondi l'indice" > <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">Mostra/Nascondi l'indice</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">Fenilchetonuria</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="Vai a una voce in un'altra lingua. Disponibile in 54 lingue" > <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 lingue</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 - arabo" lang="ar" hreflang="ar" data-title="بيلة الفينيل كيتون" data-language-autonym="العربية" data-language-local-name="arabo" 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 - azerbaigiano" lang="az" hreflang="az" data-title="Fenilketonuriya" data-language-autonym="Azərbaycanca" data-language-local-name="azerbaigiano" 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 - bosniaco" lang="bs" hreflang="bs" data-title="Fenilketonurija" data-language-autonym="Bosanski" data-language-local-name="bosniaco" 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 - catalano" lang="ca" hreflang="ca" data-title="Fenilcetonúria" data-language-autonym="Català" data-language-local-name="catalano" 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 - curdo centrale" lang="ckb" hreflang="ckb" data-title="فیناڵکەتونوریا" data-language-autonym="کوردی" data-language-local-name="curdo centrale" 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 - ceco" lang="cs" hreflang="cs" data-title="Fenylketonurie" data-language-autonym="Čeština" data-language-local-name="ceco" 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 - gallese" lang="cy" hreflang="cy" data-title="Ffenylcetonwria" data-language-autonym="Cymraeg" data-language-local-name="gallese" 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 - danese" lang="da" hreflang="da" data-title="Fenylketonuri" data-language-autonym="Dansk" data-language-local-name="danese" class="interlanguage-link-target"><span>Dansk</span></a></li><li class="interlanguage-link interwiki-de badge-Q17437798 badge-goodarticle mw-list-item" title="voce di qualità"><a href="https://de.wikipedia.org/wiki/Phenylketonurie" title="Phenylketonurie - tedesco" lang="de" hreflang="de" data-title="Phenylketonurie" data-language-autonym="Deutsch" data-language-local-name="tedesco" 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 - greco" lang="el" hreflang="el" data-title="Φαινυλκετονουρία" data-language-autonym="Ελληνικά" data-language-local-name="greco" 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 - inglese" lang="en" hreflang="en" data-title="Phenylketonuria" data-language-autonym="English" data-language-local-name="inglese" 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 - spagnolo" lang="es" hreflang="es" data-title="Fenilcetonuria" data-language-autonym="Español" data-language-local-name="spagnolo" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-eu mw-list-item"><a href="https://eu.wikipedia.org/wiki/Fenilzetonuria" title="Fenilzetonuria - basco" lang="eu" hreflang="eu" data-title="Fenilzetonuria" data-language-autonym="Euskara" data-language-local-name="basco" class="interlanguage-link-target"><span>Euskara</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 - persiano" lang="fa" hreflang="fa" data-title="فنیل کتونوری" data-language-autonym="فارسی" data-language-local-name="persiano" 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 - finlandese" lang="fi" hreflang="fi" data-title="Fenyyliketonuria" data-language-autonym="Suomi" data-language-local-name="finlandese" 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 - francese" lang="fr" hreflang="fr" data-title="Phénylcétonurie" data-language-autonym="Français" data-language-local-name="francese" 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 - irlandese" lang="ga" hreflang="ga" data-title="Feinilcéatónúire" data-language-autonym="Gaeilge" data-language-local-name="irlandese" 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 - ebraico" lang="he" hreflang="he" data-title="פנילקטונוריה" data-language-autonym="עברית" data-language-local-name="ebraico" 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 - croato" lang="hr" hreflang="hr" data-title="Fenilketonurija" data-language-autonym="Hrvatski" data-language-local-name="croato" 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 - ungherese" lang="hu" hreflang="hu" data-title="Fenilketonuria" data-language-autonym="Magyar" data-language-local-name="ungherese" 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 - armeno" lang="hy" hreflang="hy" data-title="Ֆենիլկետոնուրիա" data-language-autonym="Հայերեն" data-language-local-name="armeno" 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 - indonesiano" lang="id" hreflang="id" data-title="Fenilketonuria" data-language-autonym="Bahasa Indonesia" data-language-local-name="indonesiano" class="interlanguage-link-target"><span>Bahasa Indonesia</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 - giapponese" 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="giapponese" 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 - georgiano" lang="ka" hreflang="ka" data-title="ფენილკეტონურია" data-language-autonym="ქართული" data-language-local-name="georgiano" 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 - coreano" lang="ko" hreflang="ko" data-title="페닐케톤뇨증" data-language-autonym="한국어" data-language-local-name="coreano" 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 - curdo" lang="ku" hreflang="ku" data-title="Fenîlketonurî" data-language-autonym="Kurdî" data-language-local-name="curdo" 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 - lituano" lang="lt" hreflang="lt" data-title="Fenilketonurija" data-language-autonym="Lietuvių" data-language-local-name="lituano" 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 - lettone" lang="lv" hreflang="lv" data-title="Fenilketonūrija" data-language-autonym="Latviešu" data-language-local-name="lettone" 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 - macedone" lang="mk" hreflang="mk" data-title="Фенилкетонурија" data-language-autonym="Македонски" data-language-local-name="macedone" 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 - malayalam" lang="ml" hreflang="ml" data-title="ഫിനൈൽകീറ്റോൺയൂറിയ" data-language-autonym="മലയാളം" data-language-local-name="malayalam" 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 - olandese" lang="nl" hreflang="nl" data-title="Fenylketonurie" data-language-autonym="Nederlands" data-language-local-name="olandese" 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 - norvegese nynorsk" lang="nn" hreflang="nn" data-title="Fenylketonuri" data-language-autonym="Norsk nynorsk" data-language-local-name="norvegese nynorsk" 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 - norvegese bokmål" lang="nb" hreflang="nb" data-title="Fenylketonuri" data-language-autonym="Norsk bokmål" data-language-local-name="norvegese bokmål" 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 - odia" lang="or" hreflang="or" data-title="ଫିନାଇଲକିଟୋନୁରିଆ" data-language-autonym="ଓଡ଼ିଆ" data-language-local-name="odia" 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 - polacco" lang="pl" hreflang="pl" data-title="Fenyloketonuria" data-language-autonym="Polski" data-language-local-name="polacco" 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 - pashto" lang="ps" hreflang="ps" data-title="فېنایل‌کېتونوریا" data-language-autonym="پښتو" data-language-local-name="pashto" 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 - portoghese" lang="pt" hreflang="pt" data-title="Fenilcetonúria" data-language-autonym="Português" data-language-local-name="portoghese" 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 - rumeno" lang="ro" hreflang="ro" data-title="Fenilcetonurie" data-language-autonym="Română" data-language-local-name="rumeno" 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 - russo" lang="ru" hreflang="ru" data-title="Фенилкетонурия" data-language-autonym="Русский" data-language-local-name="russo" 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 - serbo-croato" lang="sh" hreflang="sh" data-title="Fenilketonurija" data-language-autonym="Srpskohrvatski / српскохрватски" data-language-local-name="serbo-croato" 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 - slovacco" lang="sk" hreflang="sk" data-title="Fenylketonúria" data-language-autonym="Slovenčina" data-language-local-name="slovacco" 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 - sloveno" lang="sl" hreflang="sl" data-title="Fenilketonurija" data-language-autonym="Slovenščina" data-language-local-name="sloveno" 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 - albanese" lang="sq" hreflang="sq" data-title="Fenilketonuria" data-language-autonym="Shqip" data-language-local-name="albanese" 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 - serbo" lang="sr" hreflang="sr" data-title="Фенилкетонурија" data-language-autonym="Српски / srpski" data-language-local-name="serbo" 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 - svedese" lang="sv" hreflang="sv" data-title="Fenylketonuri" data-language-autonym="Svenska" data-language-local-name="svedese" 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 - tamil" lang="ta" hreflang="ta" data-title="பினைல் கீட்டோன் கழிவு" data-language-autonym="தமிழ்" data-language-local-name="tamil" 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 - thailandese" lang="th" hreflang="th" data-title="ฟีนิลคีโตนูเรีย" data-language-autonym="ไทย" data-language-local-name="thailandese" 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 - turco" lang="tr" hreflang="tr" data-title="Fenilketonüri" data-language-autonym="Türkçe" data-language-local-name="turco" 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 - ucraino" lang="uk" hreflang="uk" data-title="Фенілкетонурія" data-language-autonym="Українська" data-language-local-name="ucraino" 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 - uzbeco" lang="uz" hreflang="uz" data-title="Fenilketonuriya" data-language-autonym="Oʻzbekcha / ўзбекча" data-language-local-name="uzbeco" 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 - vietnamita" lang="vi" hreflang="vi" data-title="Bệnh Phenylketone niệu" data-language-autonym="Tiếng Việt" data-language-local-name="vietnamita" 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 - vallone" lang="wa" hreflang="wa" data-title="Fenilcetonureye" data-language-autonym="Walon" data-language-local-name="vallone" 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 - cinese" lang="zh" hreflang="zh" data-title="苯丙酮尿症" data-language-autonym="中文" data-language-local-name="cinese" 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="Modifica 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color:#ffffff;">Fenilchetonuria</th></tr><tr><td class="sinottico_testo_centrale" colspan="2"><b><a href="/wiki/Malattia_rara" title="Malattia rara">Malattia rara</a></b> </td></tr><tr><th>Cod. esenz. <a href="/wiki/Servizio_sanitario_nazionale_(Italia)" title="Servizio sanitario nazionale (Italia)">SSN</a></th><td>RCG040 </td></tr><tr><th>Specialità</th><td><a href="/wiki/Endocrinologia" title="Endocrinologia">endocrinologia</a> </td></tr><tr class="sinottico_divisione"><th colspan="2">Classificazione e risorse esterne (<span style="font-weight:bolder; font-size:80%"><abbr title="inglese">EN</abbr></span>)</th></tr><tr><th><a href="/wiki/Classificazione_ICD" title="Classificazione ICD">ICD-10</a></th><td><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><a href="/wiki/Mendelian_Inheritance_in_Man" title="Mendelian Inheritance in Man">OMIM</a></th><td><a rel="nofollow" class="external text" href="https://omim.org/entry/261600">261600</a> </td></tr><tr><th><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></th><td><a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/cgi/mesh/2025/MB_cgi?field=uid&term=D010661">D010661</a> </td></tr><tr><th><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a></th><td><a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/001166.htm">001166</a> </td></tr><tr><th><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a></th><td><a rel="nofollow" class="external text" href="http://emedicine.medscape.com/article/947781">947781</a> </td></tr><tr><td class="sinottico_piede2 noprint nomobile metadata" colspan="2"><a href="https://www.wikidata.org/wiki/Q194041" class="extiw" title="d:Q194041"><span title="Modifica i dati della voce Fenilchetonuria su Wikidata">Modifica dati su Wikidata</span></a><b> ·</b> <a href="/wiki/Template:Malattia/man" title="Template:Malattia/man"><span title="Manuale del template Malattia">Manuale</span></a></td></tr></tbody></table> <p>Il termine <b>fenilchetonuria</b> o <b>iperfenilalaninemia di tipo I</b> indica la presenza di alti tassi di fenilpiruvato nelle <a href="/wiki/Urine" class="mw-redirect" title="Urine">urine</a> e di <a href="/wiki/Fenilalanina" title="Fenilalanina">fenilalanina</a> nel <a href="/wiki/Sangue" title="Sangue">sangue</a>. Si riferisce più spesso alla <b>sindrome fenilchetonurica</b> o <b>PKU</b>, la più comune malattia <a href="/wiki/Pediatria" title="Pediatria">pediatrica</a> genetica, dovuta a diversi tipi di <a href="/wiki/Mutazione_genetica" title="Mutazione genetica">mutazioni</a> recessive di un gene localizzato sul <a href="/wiki/Cromosoma_12" title="Cromosoma 12">cromosoma 12</a> (locus 12q23.2), tutte accomunate dal fatto di produrre come effetto finale fenilchetonuria e <a href="/wiki/Iperfenilalaninemia" title="Iperfenilalaninemia">iperfenilalaninemia</a>. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Epidemiologia">Epidemiologia</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilchetonuria&veaction=edit&section=1" title="Modifica la sezione Epidemiologia" class="mw-editsection-visualeditor"><span>modifica</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilchetonuria&action=edit&section=1" title="Edit section's source code: Epidemiologia"><span>modifica wikitesto</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>La fenilchetonuria è classificata come <a href="/wiki/Malattia_rara" title="Malattia rara">malattia rara del metabolismo</a>. L'iperfenilalaninemia di tipo I ha una frequenza di 1:10.000-15.000 nati vivi. </p> <div class="mw-heading mw-heading2"><h2 id="Storia">Storia</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilchetonuria&veaction=edit&section=2" title="Modifica la sezione Storia" class="mw-editsection-visualeditor"><span>modifica</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilchetonuria&action=edit&section=2" title="Edit section's source code: Storia"><span>modifica wikitesto</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Prima che la fenilchetonuria fosse analizzata e studiata era causa di gravi disabilità neurologiche negli individui affetti, riscontrabili ancora oggi in quei pazienti nati prima che lo screen neonatale metabolico fosse largamente diffuso. </p><p>La malattia venne scoperta dal medico norvegese <a href="/w/index.php?title=Ivar_Asbj%C3%B8rn_F%C3%B8lling&action=edit&redlink=1" class="new" title="Ivar Asbjørn Følling (la pagina non esiste)">Ivar Asbjørn Følling</a> nel 1934<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>, quando egli notò che correlata ad un iperfenilalaninemia vi era una <a href="/wiki/Disabilit%C3%A0_intellettiva" title="Disabilità intellettiva">disabilità intellettiva</a>. Følling fu inoltre uno dei primi medici che applicarono dettagliate analisi biochimiche allo studio di una malattia. Nel 1934 si presentò all'ospedale di Oslo <i>Rikshospitalet</i> una giovane donna di nome Borgny Egeland, madre di due figli, Liv e Dag, sani alla nascita ma che gradualmente svilupparono un ritardo mentale. La madre inoltre si era accorta che l'urina di Dag aveva un forte odore insolito, per questo essa venne analizzata dal Dr. Følling il quale riscontrò che l'odore in questione era causato dall'eccesso di acido fenilpiruvico nelle urine del bambino, e proprio da questa esperienza venne coniato il termine fenilchetonuria<sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup>. </p><p>La scoperta dell'acido fenilpiruvico nelle urine fu possibile in quanto Følling chiese ad altri medici di poter testare le urine di pazienti aventi le stesse condizioni, ed in otto casi venne riscontrata la stessa sostanza nelle urine. Una serie di studi ed esperimenti precisi permisero di determinare la natura della sostanza in questione, in particolare notò che a partire da essa era possibile ottenere dell'<a href="/wiki/Acido_benzoico" title="Acido benzoico">acido benzoico</a> e della <a href="/wiki/Benzaldeide" title="Benzaldeide">benzaldeide</a>, il che gli fece concludere la presenza di un gruppo benzenico all'interno della molecola, inoltre venne provato che la <a href="/wiki/Punto_di_fusione" title="Punto di fusione">temperatura di fusione</a> di tale sostanza era la stessa dell'acido fenilpiruvico, compatibile con la componente benzenica osservata. </p> <div class="mw-heading mw-heading2"><h2 id="Eziopatogenesi">Eziopatogenesi</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilchetonuria&veaction=edit&section=3" title="Modifica la sezione Eziopatogenesi" class="mw-editsection-visualeditor"><span>modifica</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilchetonuria&action=edit&section=3" title="Edit section's source code: Eziopatogenesi"><span>modifica wikitesto</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>La fenilchetonuria o iperfenilalaninemia di tipo I è una malattia autosomica recessiva dovuta a mutazioni nel gene <i>PAH</i> (Phenylalanine Hydroxylase) codificante per l'enzima <a href="/wiki/Fenilalanina_4-monoossigenasi" title="Fenilalanina 4-monoossigenasi">fenilalanina idrossilasi</a>, attivo in particolare nel <a href="/wiki/Fegato" title="Fegato">fegato</a>. Sono note circa 500 mutazioni differenti a carico di questo gene. La fenilalanina idrossilasi è un enzima che, con la collaborazione della <a href="/wiki/Tetraidrobiopterina" title="Tetraidrobiopterina">tetraidrobiopterina</a> (BH4) come cofattore, trasforma l'amminoacido essenziale <a href="/wiki/Fenilalanina" title="Fenilalanina">fenilalanina</a> in <a href="/wiki/Tirosina" title="Tirosina">tirosina</a>. Quando l'enzima fenilalanina idrossilasi non è funzionante, la fenilalanina si accumula nel sangue e in alcuni tessuti del corpo (oltre 20 mg/dL mentre i livelli normali sono di 1 mg/dL). La fenilalanina accumulata viene in parte convertita in fenilpiruvato e fenilacetato, i quali vengono escreti attraverso le urine. </p><p>La carenza di tirosina, dovuta all'inefficiente conversione di fenilalanina in tirosina, porta a bassi livelli di tirosina e conseguentemente a un'insufficiente produzione di molecole da essa derivate, come i neurotrasmettitori adrenalina, noradrenalina, dopamina e il precursore della melanina, la DOPA. Elevate concentrazioni di fenilalanina nel cervello possono provocare <a href="/wiki/Ritardo_mentale" class="mw-redirect" title="Ritardo mentale">disabilità intellettive</a> e ritardo nell'accrescimento. Non è ancora noto il meccanismo con il quale la fenilalanina provochi disabilità intellettiva, ma si pensa che saturi i trasportatori di alcuni amminoacidi presso la barriera ematoencefalica determinando da una parte una concentrazione troppo elevata di questa sostanza nel cervello e d'altra parte una diminuzione dei livelli di altri amminoacidi con cui compete a livello del trasportatore. </p><p>Inoltre, dal momento che i livelli di tirosina risultano bassi e che la fenilalanina è un inibitore di enzimi come la triptofano idrossilasi, c'è una minore produzione di molti neurotrasmettitori fondamentali nei circuiti nervosi, cioè dopamina, serotonina, adrenalina e noradrenalina. Sembra che elevate concentrazioni di fenilalanina rallentino anche lo sviluppo neuronale determinando neuroni più piccoli della media che hanno più difficoltà nel formare sinapsi con altri neuroni. Alla fenilchetonuria si affiancano patologie note come iperfenilalaninemie (di tipo II e III) dovute o ad un'attività ridotta della fenilalanina idrossilasi oppure per livelli troppo bassi di tetraidrobiopterina dovuti a disfunzioni degli enzimi diidropteridina reduttasi o 6-piruvoil-tetraidropterina sintetasi. </p> <div class="mw-heading mw-heading2"><h2 id="Sintomatologia">Sintomatologia</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilchetonuria&veaction=edit&section=4" title="Modifica la sezione Sintomatologia" class="mw-editsection-visualeditor"><span>modifica</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilchetonuria&action=edit&section=4" title="Edit section's source code: Sintomatologia"><span>modifica wikitesto</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>I bambini affetti da fenilchetonuria non dimostrano sintomi particolari alla nascita. Se non trattata attraverso una dieta adeguata, col tempo molti sviluppano i primi sintomi come rash cutanei, nausea, vomito, irritabilità, eczematosi e la tossicità della fenilalanina a livello del sistema nervoso si manifesta gradualmente con tremori, ipertono muscolare e iperreflessia tendinea. La scarsa presenza di tirosina non permette che sia convertita in quantità sufficienti di dopa e quindi di melanina, conseguentemente le persone affette da questa patologia hanno carnagione chiara, spesso occhi azzurri e capelli biondi, dovuti alla depigmentazione cutanea. </p><p>A lungo termine, in assenza di dieta, i soggetti sviluppano progressive disabilità intellettive. Le pazienti affette da PKU che riescono mediante l'adeguata dieta a raggiungere un'età fertile, se a dieta fin dall'inizio della gravidanza, non creano problemi rilevanti al feto che nascerà eterozigote per la PKU, ma sano. Seri problemi si hanno in gravidanze non programmate di donne PKU e, quindi, a dieta libera. I livelli elevati di fenilalanina ematici della madre possono avere effetti teratogeni sul feto. Il feto rischia nei primi due mesi problemi cardiaci e successivamente microcefalia che può comportare un grave ritardo mentale. Durante il parto non si hanno problemi particolari. Il soggetto affetto da fenilchetonuria deve attenersi ad una dieta rigida che prevede l'introduzione di alimenti a basso contenuto proteico per evitare i potenziali danni che si potrebbero avere non seguendo un adeguato regime alimentare. </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosi">Diagnosi</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilchetonuria&veaction=edit&section=5" title="Modifica la sezione Diagnosi" class="mw-editsection-visualeditor"><span>modifica</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilchetonuria&action=edit&section=5" title="Edit section's source code: Diagnosi"><span>modifica wikitesto</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Viste le gravi conseguenze a cui vanno incontro i fenilchetonurici, gli stati europei e americani hanno istituito <a href="/wiki/Screening_neonatale" title="Screening neonatale">indagini su tutti i neonati per la diagnosi precoce</a> della PKU. Le analisi vengono effettuate mediante la <a href="/wiki/Spettrometria_di_massa_tandem" title="Spettrometria di massa tandem">spettrometria di massa tandem</a>. </p><p>In uso anche il <b>test di Guthrie</b> che consiste nel porre una goccia di sangue su un disco di carta da filtro, messo in seguito in contatto con una coltura del batterio <i><a href="/wiki/Bacillus_subtilis" title="Bacillus subtilis">Bacillus subtilis</a></i> a cui è aggiunta β-2-tienialanina, che inibisce la crescita batterica. In presenza di fenilalanina, l'inibizione viene contrastata e i batteri sopravvivono. Una continuazione della crescita batterica è quindi segnale di alti livelli di fenilalanina, ed è necessario che il neonato sia sottoposto a ulteriori analisi. Oppure, la diagnosi viene raggiunta utilizzando il sangue prelevato alla nascita (almeno dopo 48 ore) e analizzandolo con un cromatografo per amminoacidi. Con questo test si hanno meno falsi positivi. </p> <div class="mw-heading mw-heading2"><h2 id="Terapia_e_profilassi">Terapia e profilassi</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilchetonuria&veaction=edit&section=6" title="Modifica la sezione Terapia e profilassi" class="mw-editsection-visualeditor"><span>modifica</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilchetonuria&action=edit&section=6" title="Edit section's source code: Terapia e profilassi"><span>modifica wikitesto</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>La malattia può essere tenuta sotto controllo mediante una dieta povera di fenilalanina, sostituendo cioè le proteine alimentari con una miscela dei singoli aminoacidi, ma privi di fenilalanina. Quest'ultimo amminoacido deve comunque essere fornito in quantità controllate in quanto amminoacido essenziale (quindi non sostituibile con altre molecole) ed indispensabile alla produzione delle proteine dei tessuti dell'organismo. I fabbisogni giornalieri di fenilalanina sono stimati in seguito ai controlli ematici effettuati ai pazienti PKU. Si ritiene che i valori ottimali di fenilalanina ematica per i pazienti PKU siano tra i 2,0 e 6,0 mg/100 mL di sangue. La malattia si può inoltre mantenere sotto controllo con l'uso di un medicinale (Kuvan), prodotto in forma di compresse somministrabili in base alla gravità della malattia, che può variare nel corso del tempo. </p> <div class="mw-heading mw-heading2"><h2 id="PKU_e_gravidanza">PKU e gravidanza</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilchetonuria&veaction=edit&section=7" title="Modifica la sezione PKU e gravidanza" class="mw-editsection-visualeditor"><span>modifica</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilchetonuria&action=edit&section=7" title="Edit section's source code: PKU e gravidanza"><span>modifica wikitesto</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Le pazienti affette da PKU che non seguano una dieta controllata in fenilalanina creeranno seri problemi al feto in quanto questo amminoacido, in alte concentrazioni ematiche, è tossico. I rischi cardiaci e di microcefalia possono essere evitati <b>unicamente</b> programmando la gravidanza e mettendosi a dieta prima del concepimento. In questi casi non sembrano tornare utili farmaci come il Kuvan, la molecola sintetica del BH4 (sapropterina diidroclorato) prodotta negli Stati Uniti dalla Biomarin e in Europa dalla Merck-Serono. Questa molecola, utile in una forma molto rara della PKU in cui non è coinvolta l'attività dell'enzima p-fenilalanina idrossilasi ma, appunto la BH4, ha una qualche utilità nelle iperfenilalaninemie lievi o BH4 responsive, ma non è assolutamente in grado di controllare la fenilalanina ematica nelle forme di PKU classica. La dietoterapia è la unica soluzione per una gravidanza senza problemi per il feto. Durante la gravidanza, dal 4-5 mese in poi, la tolleranza alla fenilalanina aumenta progressivamente passando da valori, ad esempio, di 300 mg/die a 1400 mg/die al termine della gravidanza. Questo aumento della tolleranza è dovuto all'attività epatica del feto che, non essendo PKU (sarà un eterozigote per la malattia), è in grado di metabolizzare e smaltire sia la propria fenilalanina, sia quella in eccesso della madre. </p> <div class="mw-heading mw-heading2"><h2 id="Note">Note</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilchetonuria&veaction=edit&section=8" title="Modifica la sezione Note" class="mw-editsection-visualeditor"><span>modifica</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilchetonuria&action=edit&section=8" title="Edit section's source code: Note"><span>modifica wikitesto</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-references-wrap"><ol class="references"> <li id="cite_note-1"><a href="#cite_ref-1"><b>^</b></a> <span class="reference-text"><cite class="citation pubblicazione" style="font-style:normal">(<span style="font-weight:bolder; font-size:80%"><abbr title="inglese">EN</abbr></span>) Asbjörn Fölling, <a rel="nofollow" class="external text" href="https://www.degruyter.com/doi/10.1515/bchm2.1934.227.1-4.169"><span style="font-style:italic;">Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität.</span></a>, in <span style="font-style:italic;">Hoppe-Seyler´s Zeitschrift für physiologische Chemie</span>, vol. 227, n. 1-4, 1934-01, pp. 169–181, <a href="/wiki/Digital_object_identifier" title="Digital object identifier">DOI</a>:<a rel="nofollow" class="external text" href="https://dx.doi.org/10.1515%2Fbchm2.1934.227.1-4.169">10.1515/bchm2.1934.227.1-4.169</a>. <small>URL consultato il 27 novembre 2020</small>.</cite></span> </li> <li id="cite_note-2"><a href="#cite_ref-2"><b>^</b></a> <span class="reference-text"><cite class="citation pubblicazione" style="font-style:normal"> Jason Gonzalez e Monte S. Willis, <a rel="nofollow" class="external text" href="https://doi.org/10.1309/LM62LVV5OSLUJOQF"><span style="font-style:italic;">Ivar Asbjörn Følling</span></a>, in <span style="font-style:italic;">Laboratory Medicine</span>, vol. 41, n. 2, 2010-02, pp. 118–119, <a href="/wiki/Digital_object_identifier" title="Digital object identifier">DOI</a>:<a rel="nofollow" class="external text" href="https://dx.doi.org/10.1309%2Flm62lvv5oslujoqf">10.1309/lm62lvv5oslujoqf</a>. <small>URL consultato il 27 novembre 2020</small>.</cite></span> </li> </ol></div> <div class="mw-heading mw-heading2"><h2 id="Altri_progetti">Altri progetti</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilchetonuria&veaction=edit&section=9" title="Modifica la sezione Altri progetti" class="mw-editsection-visualeditor"><span>modifica</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilchetonuria&action=edit&section=9" title="Edit section's source code: Altri progetti"><span>modifica wikitesto</span></a><span class="mw-editsection-bracket">]</span></span></div> <div id="interProject" class="toccolours" style="display: none; clear: both; margin-top: 2em"><p id="sisterProjects" style="background-color: #efefef; color: black; font-weight: bold; margin: 0"><span>Altri progetti</span></p><ul title="Collegamenti verso gli altri progetti Wikimedia"> <li class="" title=""><a href="https://it.wiktionary.org/wiki/fenilchetonuria" class="extiw" title="wikt:fenilchetonuria">Wikizionario</a></li> <li class="" title=""><span class="plainlinks" title="commons:Category:Phenylketonuria"><a class="external text" href="https://commons.wikimedia.org/wiki/Category:Phenylketonuria?uselang=it">Wikimedia Commons</a></span></li></ul></div> <ul><li><span typeof="mw:File"><a href="https://it.wiktionary.org/wiki/" title="Collabora a Wikizionario"><img alt="Collabora a Wikizionario" src="//upload.wikimedia.org/wikipedia/commons/thumb/f/f9/Wiktionary_small.svg/18px-Wiktionary_small.svg.png" decoding="async" width="18" height="18" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/f/f9/Wiktionary_small.svg/27px-Wiktionary_small.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/f/f9/Wiktionary_small.svg/36px-Wiktionary_small.svg.png 2x" data-file-width="350" data-file-height="350" /></a></span> <a href="https://it.wiktionary.org/wiki/" class="extiw" title="wikt:">Wikizionario</a> contiene il lemma di dizionario «<b><a href="https://it.wiktionary.org/wiki/fenilchetonuria" class="extiw" title="wikt:fenilchetonuria">fenilchetonuria</a></b>»</li> <li><span typeof="mw:File"><a href="https://commons.wikimedia.org/wiki/?uselang=it" title="Collabora a Wikimedia Commons"><img alt="Collabora a Wikimedia Commons" src="//upload.wikimedia.org/wikipedia/commons/thumb/4/4a/Commons-logo.svg/18px-Commons-logo.svg.png" decoding="async" width="18" height="24" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/4a/Commons-logo.svg/27px-Commons-logo.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/4a/Commons-logo.svg/36px-Commons-logo.svg.png 2x" data-file-width="1024" data-file-height="1376" /></a></span> <span class="plainlinks"><a class="external text" href="https://commons.wikimedia.org/wiki/?uselang=it">Wikimedia Commons</a></span> contiene immagini o altri file su <b><span class="plainlinks"><a class="external text" href="https://commons.wikimedia.org/wiki/Category:Phenylketonuria?uselang=it">fenilchetonuria</a></span></b></li></ul> <div class="mw-heading mw-heading2"><h2 id="Collegamenti_esterni">Collegamenti esterni</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fenilchetonuria&veaction=edit&section=10" title="Modifica la sezione Collegamenti esterni" class="mw-editsection-visualeditor"><span>modifica</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fenilchetonuria&action=edit&section=10" title="Edit section's source code: Collegamenti esterni"><span>modifica wikitesto</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><i><a rel="nofollow" class="external text" href="http://www.cometaasmme.org/">Cometa ASMME - Associazione Studio Malattie Metaboliche Ereditarie</a></i> su <i>cometaasmme.org</i></li> <li><cite class="citation web" style="font-style:normal"> <a rel="nofollow" class="external text" href="http://www.aismme.org"><span style="font-style:italic;">Associazione Italiana Sostegno Malattie Metaboliche Ereditarie</span></a>, su <span style="font-style:italic;">aismme.org</span>.</cite></li> <li><cite class="citation web" style="font-style:normal"> <a rel="nofollow" class="external text" href="http://www.pku.altervista.org"><span style="font-style:italic;">Fenilchetonuria (PKU), malattie rare e dintorni</span></a>, su <span style="font-style:italic;">pku.altervista.org</span>.</cite></li> <li><cite class="citation web" style="font-style:normal"> <a rel="nofollow" class="external text" href="http://www.pkuinfo.it"><span style="font-style:italic;">Informazioni, domande e risposte sulla Fenilchetonuria (PKU)</span></a>, su <span style="font-style:italic;">pkuinfo.it</span>.</cite></li> <li><cite class="citation web" style="font-style:normal"> <a rel="nofollow" class="external text" href="http://www.ammec.it"><span style="font-style:italic;">Associazione Malattie Metaboliche Congenite</span></a>, su <span style="font-style:italic;">ammec.it</span>.</cite></li> <li>(<span style="font-weight:bolder; font-size:80%"><abbr title="inglese">EN</abbr></span>) <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261600">Phenylketonuria (OMIM 261600)</a>. 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