{"id":38825,"date":"2026-06-11T18:00:00","date_gmt":"2026-06-11T16:00:00","guid":{"rendered":"https:\/\/www.mgc.es\/?p=38825"},"modified":"2026-05-19T15:10:08","modified_gmt":"2026-05-19T13:10:08","slug":"fenilcetonuria-o-pku-que-es-simptomes-i-tractament","status":"publish","type":"post","link":"https:\/\/www.mgc.es\/ca\/blog\/fenilcetonuria-o-pku-que-es-simptomes-i-tractament\/","title":{"rendered":"Fenilceton\u00faria o PKU: qu\u00e8 \u00e9s, s\u00edmptomes i tractament"},"content":{"rendered":"<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-custom ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\"><p class=\"ez-toc-title\" style=\"cursor:inherit\">\u00cdndex de continguts<\/p>\n<\/div><nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.mgc.es\/ca\/blog\/fenilcetonuria-o-pku-que-es-simptomes-i-tractament\/#Que_es_la_fenilcetonuria\" >Qu\u00e8 \u00e9s la fenilceton\u00faria<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.mgc.es\/ca\/blog\/fenilcetonuria-o-pku-que-es-simptomes-i-tractament\/#Per_que_es_produeix\" >Per qu\u00e8 es produeix<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.mgc.es\/ca\/blog\/fenilcetonuria-o-pku-que-es-simptomes-i-tractament\/#Quins_son_els_simptomes\" >Quins s\u00f3n els s\u00edmptomes<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.mgc.es\/ca\/blog\/fenilcetonuria-o-pku-que-es-simptomes-i-tractament\/#Com_es_diagnostica\" >Com es diagnostica<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.mgc.es\/ca\/blog\/fenilcetonuria-o-pku-que-es-simptomes-i-tractament\/#Com_es_tracta_la_fenilcetonuria\" >Com es tracta la fenilceton\u00faria<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.mgc.es\/ca\/blog\/fenilcetonuria-o-pku-que-es-simptomes-i-tractament\/#Prevencio\" >Prevenci\u00f3<\/a><\/li><\/ul><\/nav><\/div>\n\n<p class=\"wp-block-paragraph\">La <strong>fenilceton\u00faria<\/strong> (PKU, sigles en angl\u00e8s de <em>phenylketonuria<\/em>) \u00e9s una malaltia metab\u00f2lica heredit\u00e0ria poc freq\u00fcent que afecta la capacitat de l\u2019organisme per descompondre correctament un amino\u00e0cid essencial: la <a href=\"http:\/\/proteinasestructurafuncion.usal.es\/moleculas\/FHyF\/index.html\">fenilalanina<\/a>. Un diagn\u00f2stic preco\u00e7 i un tractament adequat permeten prevenir greus complicacions neurol\u00f2giques i portar una vida saludable.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Que_es_la_fenilcetonuria\"><\/span>Qu\u00e8 \u00e9s la fenilceton\u00faria<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La fenilalanina (PHE, per les seves sigles en angl\u00e8s) \u00e9s un amino\u00e0cid essencial necessari per a la correcta s\u00edntesi de prote\u00efnes. En condicions normals, aquest amino\u00e0cid es transforma en tirosina gr\u00e0cies a l\u2019acci\u00f3 de l\u2019enzim <strong>fenilalanina hidroxilasa (PAH)<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La tirosina participa en la producci\u00f3 de neurotransmissors com la dopamina i la noradrenalina. En les persones amb fenilceton\u00faria, aquest proc\u00e9s no es produeix adequadament, fet que provoca l\u2019acumulaci\u00f3 de fenilalanina a l\u2019organisme.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Aquesta acumulaci\u00f3 pot causar danys importants, especialment al sistema nervi\u00f3s central, si la malaltia no es tracta de manera preco\u00e7.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Per_que_es_produeix\"><\/span>Per qu\u00e8 es produeix<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La fenilceton\u00faria \u00e9s un trastorn hereditari i poc freq\u00fcent que es produeix a causa d\u2019una alteraci\u00f3 del gen responsable de la producci\u00f3 de l\u2019enzim fenilalanina hidroxilasa (PAH).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Quan ambd\u00f3s progenitors s\u00f3n portadors del gen alterat, els fills tenen una probabilitat d\u20191 de cada 4 de desenvolupar la malaltia. Aquest patr\u00f3 de transmissi\u00f3 s\u2019anomena <strong>her\u00e8ncia autos\u00f2mica recessiva<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">En les persones amb PKU, el consum d\u2019aliments rics en prote\u00efnes o de productes que contenen <a href=\"https:\/\/acsa.gencat.cat\/ca\/detall\/article\/Aspartam\">aspartam<\/a> \u2014present en refrescos light o sense sucre, iogurts i llaminadures\u2014 afavoreix l\u2019acumulaci\u00f3 de fenilalanina i pot provocar danys greus en el sistema nervi\u00f3s.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Quins_son_els_simptomes\"><\/span>Quins s\u00f3n els s\u00edmptomes<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<figure class=\"wp-block-image size-large\">\n<img loading=\"lazy\" decoding=\"async\" width=\"880\" height=\"587\" src=\"https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/04\/bebe-llorando-880x587.jpg\" alt=\"\" class=\"wp-image-38826\" srcset=\"https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/04\/bebe-llorando-880x587.jpg 880w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/04\/bebe-llorando-440x293.jpg 440w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/04\/bebe-llorando-768x512.jpg 768w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/04\/bebe-llorando-1536x1024.jpg 1536w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/04\/bebe-llorando-2048x1365.jpg 2048w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/04\/bebe-llorando-scaled.jpg 1024w\" sizes=\"auto, (max-width: 880px) 100vw, 880px\" \/>\n<\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">La fenilalanina tamb\u00e9 interv\u00e9 en la producci\u00f3 de melanina, el pigment que dona color a la pell i al cabell. Per aquest motiu, els infants amb fenilceton\u00faria solen tenir la pell, els ulls i el cabell m\u00e9s clars que els seus germans sans.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Altres s\u00edmptomes que poden apar\u00e8ixer s\u00f3n:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Mida del cap inferior a la normal (microcef\u00e0lia)<\/li>\n<li>Discapacitat intel\u00b7lectual i retard en el desenvolupament social<\/li>\n<li><a href=\"https:\/\/www.mgc.es\/blog\/tdah-trastorn-deficit-atencio-hiperactivitat\/\">Hiperactivitat<\/a><\/li>\n<li>Convulsions i tremolors<\/li>\n<li>Erupcions cut\u00e0nies<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Si la fenilceton\u00faria no es tracta o si es consumeixen aliments amb prote\u00efnes o aspartam, pot apar\u00e8ixer una olor caracter\u00edstica a floridura o \u201cratol\u00ed\u201d en l\u2019al\u00e8, l\u2019orina o la suor, causada per l\u2019acumulaci\u00f3 de fenilalanina.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Com_es_diagnostica\"><\/span>Com es diagnostica<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">A Espanya, com a la majoria de pa\u00efsos, als nadons se\u2019ls realitza la <a href=\"https:\/\/www.mgc.es\/blog\/prova-talo-nadons-recent-nascuts\/\">prova del tal\u00f3<\/a>, que consisteix a analitzar una mostra de sang per detectar preco\u00e7ment diverses malalties metab\u00f2liques, entre elles la fenilceton\u00faria.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Aquesta detecci\u00f3 preco\u00e7 permet iniciar el tractament adequat i prevenir les alteracions neurol\u00f2giques associades a la malaltia. En cas de resultat positiu, es realitzen proves complement\u00e0ries de sang i orina per confirmar el diagn\u00f2stic.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Com_es_tracta_la_fenilcetonuria\"><\/span>Com es tracta la fenilceton\u00faria<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La fenilceton\u00faria t\u00e9 tractament i es basa principalment en una <strong>dieta estricta baixa en fenilalanina<\/strong>, que s\u2019ha de seguir durant tota la vida. Aquesta dieta \u00e9s especialment important durant la inf\u00e0ncia i el creixement.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Els infants que mantenen la dieta fins a l\u2019edat adulta tenen una millor salut global i redueixen el risc de patir alteracions cognitives.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Alguns aliments amb un alt contingut en fenilalanina s\u00f3n:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Llet<\/li>\n<li>Formatge<\/li>\n<li>Fruits secs<\/li>\n<li>Soja<\/li>\n<li>Carn<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">En general, cal evitar tots els aliments rics en prote\u00efnes i els productes que continguin aspartam.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Actualment, existeixen alguns medicaments que permeten una major toler\u00e0ncia a la fenilalanina en determinats pacients:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/medlineplus.gov\/spanish\/druginfo\/meds\/a608020-es.html\">Sapropterina<\/a><\/li>\n<li><a href=\"https:\/\/www.aemps.gob.es\/informa\/informes-de-posicionamiento-terapeutico\/informe-de-posicionamiento-terapeutico-de-pegvaliasa-palynziq-en-el-tratamiento-de-fenilcetonuria\/\">Pegvaliasa<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Prevencio\"><\/span>Prevenci\u00f3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Mitjan\u00e7ant una an\u00e0lisi gen\u00e8tica o enzim\u00e0tica es pot determinar si els progenitors s\u00f3n portadors del gen responsable de la fenilceton\u00faria.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Les dones amb PKU han de seguir estrictament la dieta abans de la concepci\u00f3 i durant tot l\u2019embar\u00e0s, ja que un exc\u00e9s de fenilalanina pot causar danys al fetus, encara que aquest no hereti la malaltia.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">En alguns casos, tamb\u00e9 es pot realitzar una <a href=\"https:\/\/medlineplus.gov\/spanish\/pruebas-de-laboratorio\/amniocentesis-analisis-del-liquido-amniotico\/\">amniocentesi<\/a>, que permet detectar aquesta i altres malalties gen\u00e8tiques durant l\u2019embar\u00e0s.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Bibliografia:<\/strong><br>\n<a href=\"https:\/\/www.sanidad.gob.es\/areas\/promocionPrevencion\/cribado\/cribadoNeonatal\/enfermedadesEndocrinoMetabolicas\/fenilcetonuria.htm\">Ministeri de Sanitat: Fenilceton\u00faria<\/a><br>\n<a href=\"https:\/\/espanol.nichd.nih.gov\/salud\/temas\/pku\/informacion\/tratamientos\">NIH: Tractaments de la fenilceton\u00faria<\/a>\n<\/p>\n","protected":false},"excerpt":{"rendered":"<p>La fenilceton\u00faria (PKU, sigles en angl\u00e8s de phenylketonuria) \u00e9s una malaltia metab\u00f2lica heredit\u00e0ria poc freq\u00fcent que afecta la capacitat de l\u2019organisme per descompondre correctament un amino\u00e0cid essencial: la fenilalanina. Un diagn\u00f2stic preco\u00e7 i un tractament adequat permeten prevenir greus complicacions neurol\u00f2giques i portar una vida saludable. Qu\u00e8 \u00e9s la fenilceton\u00faria La fenilalanina (PHE, per les [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":38826,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[15],"tags":[],"class_list":["post-38825","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-salut"],"featured_image_src":"https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/04\/bebe-llorando-scaled.jpg","author_info":{"display_name":"Revista Inter\u00e8s Mutu","author_link":"https:\/\/www.mgc.es\/ca\/blog\/author\/interesmutu\/"},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Fenilceton\u00faria o PKU: qu\u00e8 \u00e9s, s\u00edmptomes i tractament - MGC M\u00fatua<\/title>\n<meta name=\"description\" content=\"Fenilceton\u00faria o PKU: qu\u00e8 \u00e9s, quins s\u00edmptomes t\u00e9, com es diagnostica i quin tractament permet prevenir danys neurol\u00f2gics.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.mgc.es\/blog\/fenilcetonuria-o-pku-que-es-sintomas-y-tratamiento\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Fenilceton\u00faria o PKU: qu\u00e8 \u00e9s, s\u00edmptomes i tractament - 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