{"id":10694,"date":"2023-01-05T17:57:51","date_gmt":"2023-01-05T17:57:51","guid":{"rendered":"https:\/\/latam.ptcbio.com\/pt\/?page_id=10694"},"modified":"2025-10-10T16:34:22","modified_gmt":"2025-10-10T20:34:22","slug":"fenilcetonuria","status":"publish","type":"page","link":"https:\/\/latam.ptcbio.com\/pt\/areas-terapeuticas\/fenilcetonuria\/","title":{"rendered":"Fenilceton\u00faria"},"content":{"rendered":"<div class=\"hero-header__outer-container\">\n\n\t<div class=\"hero hero--styled color-theme--denim-blue hero--no-image hero--normal-spacing\">\n\t\t\t\t\t\t<div class=\"hero__bg\">\n\t\t\t<div id=\"particles-js\" class=\"hero__constellation hero__constellation--center\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t\t<div class=\"hero__inner hero__inner--center\">\n\t\t\t<div class=\"hero__content hero__content--center hero__content--no-image\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"u-mt-1 u-my-2\"><h1 class=\"hero__title hero__title--standard\" data-ptc-fitty=\"\">Fenilceton\u00faria (PKU)<\/h1><\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"hero__subtitle\">Condi\u00e7\u00e3o metab\u00f3lica causada por muta\u00e7\u00f5es na fenilalanina hidroxilase que pode levar a defici\u00eancia cognitiva e convuls\u00f5es<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t\t<div class=\"hero__breadcrumbs\"><nav\n\tclass=\"breadcrumbs breadcrumbs--deep\"\n\taria-label=\"Breadcrumb\"\n>\n\t<ol class=\"breadcrumbs__list\" itemscope itemtype=\"https:\/\/schema.org\/BreadcrumbList\">\n\t\t\t\t\t\t\t\t\t<li class=\"breadcrumbs__crumb breadcrumbs__crumb--light\" itemscope itemprop=\"itemListElement\" itemtype=\"https:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t\t\t\t\t\t<a class=\"breadcrumbs__link breadcrumbs__link--home breadcrumbs__link--light\" itemprop=\"item\" href=\"https:\/\/latam.ptcbio.com\/pt\/\">\n\t\t\t\t\t\t\t<span class=\"sr-only\" itemprop=\"name\">P\u00e1gina Inicial<\/span>\n\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t<meta itemprop=\"position\" content=\"1\" \/>\n\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumbs__crumb breadcrumbs__crumb--light\" itemscope itemprop=\"itemListElement\" itemtype=\"https:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<a\n\t\t\t\t\t\t\t\tclass=\"breadcrumbs__link\" itemprop=\"item\"\n\t\t\t\t\t\t\t\thref=\"https:\/\/latam.ptcbio.com\/pt\/areas-terapeuticas\/\"\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span itemprop=\"name\">\u00c1reas Terap\u00eauticas<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<meta itemprop=\"position\" content=\"2\" \/>\n\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumbs__crumb breadcrumbs__crumb--light\" itemscope itemprop=\"itemListElement\" itemtype=\"https:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span\n\t\t\t\t\t\t\t\tclass=\"breadcrumbs__current\" itemprop=\"item\"\n\t\t\t\t\t\t\t\taria-current=\"page\"\t\t\t\t\t\t\t>\n\t\t\t\t\t\t\t\t<span itemprop=\"name\">Fenilceton\u00faria<\/span>\n\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<meta itemprop=\"position\" content=\"3\" \/>\n\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ol>\n<\/nav>\n<\/div>\n\t<\/div>\n\n\n\n<figure class=\"wp-block-image alignright size-full is-resized is-style-lightbox\"><img loading=\"lazy\" decoding=\"async\" width=\"2541\" height=\"2560\" src=\"https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-scaled.jpg\" alt=\"PKU Symptoms graphic\" class=\"wp-image-17033\" style=\"width:325px;height:auto\" srcset=\"https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-scaled.jpg 2541w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-298x300.jpg 298w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-1017x1024.jpg 1017w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-150x150.jpg 150w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-768x774.jpg 768w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-1525x1536.jpg 1525w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-2033x2048.jpg 2033w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-400x403.jpg 400w\" sizes=\"auto, (max-width: 2541px) 100vw, 2541px\" \/><button class=\"modal-toggle\" type=\"button\" data-bs-toggle=\"modal\" data-bs-target=\"#mg-image-modal\" aria-label=\"View image in lightbox\"><img fetchpriority=\"high\" decoding=\"async\" width=\"2541\" height=\"2560\" src=\"https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-scaled.jpg\" class=\"attachment-full size-full\" alt=\"PKU Symptoms graphic\" hidden=\"\" loading=\"eager\" srcset=\"https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-scaled.jpg 2541w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-298x300.jpg 298w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-1017x1024.jpg 1017w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-150x150.jpg 150w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-768x774.jpg 768w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-1525x1536.jpg 1525w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-2033x2048.jpg 2033w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Symptoms-400x403.jpg 400w\" sizes=\"(max-width: 2541px) 100vw, 2541px\" \/><\/button><\/figure>\n\n\n\n<p class=\"core-block core-paragraph\"><strong>O que \u00e9 fenilceton\u00faria?<\/strong>&nbsp;<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">A fenilceton\u00faria (PKU) \u00e9 uma doen\u00e7a metab\u00f3lica heredit\u00e1ria rara que afeta o c\u00e9rebro.<sup>1<\/sup> \u00c9 causada por um defeito no gene que ajuda a produzir a enzima necess\u00e1ria para decompor a fenilalanina.<sup>1<\/sup> Se n\u00e3o tratada ou mal administrada, a fenilalanina, um amino\u00e1cido essencial encontrado em todas as prote\u00ednas e na maioria dos alimentos, pode se acumular no corpo a n\u00edveis prejudiciais. Isso causa defici\u00eancias graves e irrevers\u00edveis, como defici\u00eancia intelectual permanente, convuls\u00f5es, atraso no desenvolvimento, perda de mem\u00f3ria e problemas comportamentais e emocionais.<sup>1<\/sup><\/p>\n\n\n\n<p class=\"core-block core-paragraph\">Rec\u00e9m-nascidos com fenilceton\u00faria inicialmente n\u00e3o apresentam sintomas, mas os sintomas geralmente s\u00e3o progressivos e os danos causados pelos n\u00edveis t\u00f3xicos de fenilalanina nos primeiros anos de vida s\u00e3o irrevers\u00edveis.<sup>2 3<\/sup><\/p>\n\n\n\n<p class=\"core-block core-paragraph\">O diagn\u00f3stico da fenilceton\u00faria geralmente ocorre durante programas de triagem neonatal.<sup>4<\/sup><\/p>\n\n\n\n<p class=\"core-block core-paragraph\"><strong>O qu\u00e3o comum \u00e9 a fenilceton\u00faria?<\/strong><\/p>\n\n\n\n<p class=\"core-block core-paragraph\">Estima-se que existam 58.000 pessoas com fenilceton\u00faria em todo o mundo. Homens e mulheres t\u00eam a mesma probabilidade de herdar o gene defeituoso e desenvolver fenilceton\u00faria.<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"2560\" height=\"601\" src=\"https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Double-660x155-1-scaled.jpg\" alt=\"How common is PKU?\" class=\"wp-image-17032\" style=\"width:692px;height:auto\" srcset=\"https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Double-660x155-1-scaled.jpg 2560w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Double-660x155-1-300x70.jpg 300w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Double-660x155-1-1024x241.jpg 1024w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Double-660x155-1-768x180.jpg 768w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Double-660x155-1-1536x361.jpg 1536w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Double-660x155-1-2048x481.jpg 2048w, https:\/\/latam.ptcbio.com\/pt\/wp-content\/uploads\/sites\/10\/2025\/09\/PT-Therapeutic_Infographics-PKU-Double-660x155-1-400x94.jpg 400w\" sizes=\"auto, (max-width: 2560px) 100vw, 2560px\" \/><\/figure>\n\n\n\n<div style=\"--mg-spacer-desktop: 32px; --mg-spacer-mobile: 16px; height: var(--mg-spacer-desktop);\" aria-hidden=\"true\" class=\"mg-spacer--responsive wp-block-spacer\"><\/div>\n\n\n\n<div  class=\"quote-block  color-theme--light-blue\">\n\n\t\n\t<div class=\"quote-block__content\">\n\t\t<blockquote class=\"quote-block__text color-theme-border--light-blue\">\n\t\t\t<div class=\"quote-block__heading heading--4\">\n\t\t\t\tSabemos, por meio de nossa pesquisa, que existe uma grande comunidade de pacientes com PKU que precisa de mais op\u00e7\u00f5es de tratamento. Tamb\u00e9m criamos relacionamentos incr\u00edveis dentro dessa comunidade, inclusive com pacientes e organiza\u00e7\u00f5es de apoio. Ajudar essa comunidade \u00e9 minha miss\u00e3o e motiva\u00e7\u00e3o, e minha confian\u00e7a na ci\u00eancia me ajuda a manter o foco e me impulsiona a seguir em frente.\t\t\t<\/div>\n\t\t<\/blockquote>\n\n\t\t\t\t\t<cite class=\"quote-block__author quote-block__author--name\">\n\t\t\t\tNeil Smith\t\t\t<\/cite>\n\t\t\n\t\t\t\t\t<cite class=\"quote-block__author quote-block__author--title\">\n\t\t\t\tL\u00edder Global do Projeto PKU para PTC\t\t\t<\/cite>\n\t\t\t<\/div>\n\n<\/div>\n\n\n\n\n<div style=\"--mg-spacer-desktop: 34px; --mg-spacer-mobile: 17px; height: var(--mg-spacer-desktop);\" aria-hidden=\"true\" class=\"mg-spacer--responsive wp-block-spacer\"><\/div>\n\n\n<div  class=\"text-block text-block--standard color-theme--purple-gradient\">\n\t\t<div class=\"text-block__wrapper\" >\n\n\t\t\n\t\t\t\t\t<h2 class=\"text-block__heading\">\n\t\t\t\t<span class=\"heading--2\"  data-ptc-fitty=\"\">D\u00favidas?<\/span>\n\t\t\t<\/h2>\n\t\t\n\t\t<div class=\"text-block__content wysiwyg--decoration wysiwyg--color\">\n\t\t\t<p>Entre em contato se quiser falar conosco.<\/p>\n\t\t<\/div>\n\n\t\t\n\t\t\t<div class=\"dual-cta__ctas dual-cta__ctas--same dual-cta__ctas--center\">\n\n\t\t\t\t\t<a href=\"mailto:infobrasil@ptcbio.com\" target=\"\" class=\"dual-cta__button btn btn--dark-primary\">Pacientes e Fam\u00edlias<\/a>\n\t\t\n\t\t\t\t\t<a href=\"mailto:brasilmedinfo@ptcbio.com\" target=\"\" class=\"dual-cta__button btn btn--dark-primary\">Profissionais da Sa\u00fade<\/a>\n\t\t\n\t\t\n\t<\/div>\n\n\t<\/div>\n<\/div>\n\n\n\n\n<div  class=\"references-block color-theme--purple-steel\">\n\t<div class=\"references-block__wrapper\">\n\n\t\t\t\t\t<div class=\"references-block__title heading--6\">\n\t\t\t\tREFER\u00caNCIAS\t\t\t<\/div>\n\t\t\n\t\t<div class=\"references-block__content wysiwyg wysiwyg--pure\">\n\t\t\t<p>[1] de Groot MJ, Hoeksma M, Blau N, et al. Mol Genet Metab 2010;99:S86-S89.<\/p>\n<p>[2] Phenylketonuria (PKU). Dispon\u00edvel em: https:\/\/www.mayoclinic.org\/diseases-conditions\/phenylketonuria\/symptoms-causes\/syc-20376302. Acessado em outubro de 2021.<\/p>\n<p>[3] Blau N, van Spronsen FJ, Levy HL. Lancet 2010;376:1417-1427.<\/p>\n<p>[4] Al Hafid N, Christodoulou J. Transl Pediatr 2015;4(4):304-317.<\/p>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n\n<p class=\"core-block core-paragraph\"><\/p>\n","protected":false},"excerpt":{"rendered":"<p>O que \u00e9 fenilceton\u00faria?&nbsp; A fenilceton\u00faria (PKU) \u00e9 uma doen\u00e7a metab\u00f3lica heredit\u00e1ria rara que afeta o c\u00e9rebro.1 \u00c9 causada por um defeito no gene que ajuda a produzir a enzima necess\u00e1ria para decompor a fenilalanina.1 Se n\u00e3o tratada ou mal administrada, a fenilalanina, um amino\u00e1cido essencial encontrado em todas as prote\u00ednas e na maioria dos&hellip;<\/p>\n","protected":false},"author":14,"featured_media":0,"parent":9951,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-10694","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.2 (Yoast SEO v27.2) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Fenilceton\u00faria - PTC Therapeutics (LATAM-Portuguese)<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/latam.ptcbio.com\/pt\/areas-terapeuticas\/fenilcetonuria\/\" \/>\n<meta property=\"og:locale\" content=\"pt_BR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Fenilceton\u00faria\" \/>\n<meta property=\"og:description\" content=\"O que \u00e9 fenilceton\u00faria?&nbsp; 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