{"id":10694,"date":"2023-01-05T17:57:51","date_gmt":"2023-01-05T17:57:51","guid":{"rendered":"https:\/\/latam.ptcbio.com\/es\/?page_id=10694"},"modified":"2025-12-05T16:34:34","modified_gmt":"2025-12-05T20:34:34","slug":"fenilcetonuria","status":"publish","type":"page","link":"https:\/\/latam.ptcbio.com\/es\/areas-terapeuticas\/fenilcetonuria\/","title":{"rendered":"Fenilcetonuria"},"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=\"\">Fenilcetonuria (PKU)<\/h1><\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"hero__subtitle\">Condici\u00f3n metab\u00f3lica causada por mutaciones en la fenilalanina hidroxilasa que puede provocar discapacidades cognitivas y convulsiones.<\/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\/es\/\">\n\t\t\t\t\t\t\t<span class=\"sr-only\" itemprop=\"name\">P\u00e1gina principal<\/span>\n\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t<meta itemprop=\"position\" 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itemprop=\"name\">Fenilcetonuria<\/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\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-scaled.jpg\" alt=\"PKU Infographic\" class=\"wp-image-17028\" style=\"width:325px;height:auto\" srcset=\"https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-scaled.jpg 2541w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-298x300.jpg 298w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-1017x1024.jpg 1017w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-150x150.jpg 150w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-768x774.jpg 768w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-1525x1536.jpg 1525w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-2033x2048.jpg 2033w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_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\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-scaled.jpg\" class=\"attachment-full size-full\" alt=\"PKU Infographic\" hidden=\"\" loading=\"eager\" srcset=\"https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-scaled.jpg 2541w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-298x300.jpg 298w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-1017x1024.jpg 1017w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-150x150.jpg 150w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-768x774.jpg 768w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-1525x1536.jpg 1525w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-2033x2048.jpg 2033w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-400x403.jpg 400w\" sizes=\"(max-width: 2541px) 100vw, 2541px\" \/><\/button><\/figure>\n\n\n\n<p class=\"wp-block-paragraph core-block core-paragraph\"><strong><strong>\u00bfQu\u00e9 es la fenilcetonuria?<\/strong><\/strong>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph core-block core-paragraph\">La fenilcetonuria (PKU) es una enfermedad metab\u00f3lica hereditaria poco com\u00fan que afecta el cerebro.<sup>1<\/sup> Es causada por un defecto en el gen que ayuda a crear la enzima necesaria para descomponer la fenilalanina.<sup>1 <\/sup>Si no se trata o se maneja de forma inadecuada, la fenilalanina \u2014un amino\u00e1cido esencial presente en todas las prote\u00ednas y en la mayor\u00eda de los alimentos\u2014 puede acumularse a niveles da\u00f1inos en el organismo. Esto provoca discapacidades graves e irreversibles, como discapacidad intelectual permanente, convulsiones, retraso en el desarrollo, p\u00e9rdida de memoria y problemas conductuales y emocionales.<sup>1<\/sup><\/p>\n\n\n\n<p class=\"wp-block-paragraph core-block core-paragraph\">Los reci\u00e9n nacidos con fenilcetonuria inicialmente no presentan s\u00edntomas, pero estos suelen aparecer progresivamente. El da\u00f1o causado por niveles t\u00f3xicos de fenilalanina en los primeros a\u00f1os de vida es irreversible.<sup>2,3<\/sup><\/p>\n\n\n\n<p class=\"wp-block-paragraph core-block core-paragraph\">El diagn\u00f3stico de fenilcetonuria generalmente se realiza mediante programas de cribado neonatal.<sup>4<\/sup><\/p>\n\n\n\n<p class=\"wp-block-paragraph core-block core-paragraph\"><strong><strong>\u00bfQu\u00e9 tan com\u00fan es la fenilcetonuria?<\/strong><\/strong>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph core-block core-paragraph\">Se estima que hay unas <strong>58,000 personas afectadas en todo el mundo<\/strong>.<br>Hombres y mujeres tienen la misma probabilidad de heredar el gen defectuoso y desarrollar PKU.<\/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\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Double-660x155-1-scaled.jpg\" alt=\"PKU Infographic\" class=\"wp-image-17029\" style=\"width:639px;height:auto\" srcset=\"https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Double-660x155-1-scaled.jpg 2560w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Double-660x155-1-300x70.jpg 300w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Double-660x155-1-1024x241.jpg 1024w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Double-660x155-1-768x180.jpg 768w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Double-660x155-1-1536x361.jpg 1536w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Double-660x155-1-2048x481.jpg 2048w, https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Double-660x155-1-400x94.jpg 400w\" sizes=\"auto, (max-width: 2560px) 100vw, 2560px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph core-block core-paragraph\"><strong><strong>\u00bfC\u00f3mo est\u00e1 trabajando PTC para tratar la fenilcetonuria?<\/strong><\/strong>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph core-block core-paragraph\">PTC est\u00e1 desarrollando un tratamiento potencial para la fenilcetonuria basado en nuestra plataforma metab\u00f3lica.<\/p>\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 nuestra investigaci\u00f3n que existe una gran comunidad de pacientes con PKU que necesita m\u00e1s opciones de tratamiento. Tambi\u00e9n hemos construido relaciones incre\u00edbles dentro de esta comunidad, incluyendo pacientes y organizaciones de defensa. Ayudar a esta comunidad es mi misi\u00f3n y motivaci\u00f3n, y mi confianza en la ciencia me ayuda a mantenerme enfocado y seguir adelante.\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 del Proyecto PKU en 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<h3 class=\"text-block__heading\">\n\t\t\t\t<span class=\"heading--3\"  data-ptc-fitty=\"\">Do you have questions?<\/span>\n\t\t\t<\/h3>\n\t\t\n\t\t<div class=\"text-block__content wysiwyg--decoration wysiwyg--color\">\n\t\t\t<p><span class=\"NormalTextRun SCXP77754502 BCX0\">Please reach out if you would like to speak with\u00a0<\/span><span class=\"NormalTextRun SCXP77754502 BCX0\">us.<\/span><\/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:PatientInfo@ptcbio.com\" target=\"\" class=\"dual-cta__button btn btn--dark-primary\">Patients and Families<\/a>\n\t\t\n\t\t\t\t\t<a href=\"mailto:MedInfo@ptcbio.com\" target=\"\" class=\"dual-cta__button btn btn--dark-primary\">Healthcare Professionals<\/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\tReferences\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.\u00a0Mol Genet Metab\u00a02010;99:S86\u2013S89.<\/p>\n<p>[2] Phenylketonuria (PKU). Available at: https:\/\/www.mayoclinic.org\/diseases-conditions\/phenylketonuria\/symptoms-causes\/syc-20376302. Accessed October 2021.<\/p>\n<p>[3] Blau N, van Spronsen FJ, Levy HL. Lancet 2010;376:1417\u20131427.<\/p>\n<p>[4] Al Hafid N, Christodoulou J. Transl Pediatr 2015;4(4):304\u2013317.<\/p>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>\u00bfQu\u00e9 es la fenilcetonuria?&nbsp; La fenilcetonuria (PKU) es una enfermedad metab\u00f3lica hereditaria poco com\u00fan que afecta el cerebro.1 Es causada por un defecto en el gen que ayuda a crear la enzima necesaria para descomponer la fenilalanina.1 Si no se trata o se maneja de forma inadecuada, la fenilalanina \u2014un amino\u00e1cido esencial presente en todas&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 v27.6 (Yoast SEO v27.6) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Fenilcetonuria - PTC Therapeutics (LATAM-Spanish)<\/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\/es\/areas-terapeuticas\/fenilcetonuria\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Fenilcetonuria\" \/>\n<meta property=\"og:description\" content=\"\u00bfQu\u00e9 es la fenilcetonuria?&nbsp; La fenilcetonuria (PKU) es una enfermedad metab\u00f3lica hereditaria poco com\u00fan que afecta el cerebro.1 Es causada por un defecto en el gen que ayuda a crear la enzima necesaria para descomponer la fenilalanina.1 Si no se trata o se maneja de forma inadecuada, la fenilalanina \u2014un amino\u00e1cido esencial presente en todas&hellip;\" \/>\n<meta property=\"og:url\" content=\"https:\/\/latam.ptcbio.com\/es\/areas-terapeuticas\/fenilcetonuria\/\" \/>\n<meta property=\"og:site_name\" content=\"PTC Therapeutics (LATAM-Spanish)\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/PTCTherapeutics\" \/>\n<meta property=\"article:modified_time\" content=\"2025-12-05T20:34:34+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/latam.ptcbio.com\/es\/wp-content\/uploads\/sites\/24\/2025\/12\/Therapeutic_Infographics-PKU-SP_PKU-Symptoms-scaled.jpg\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:site\" content=\"@PTCBio\" \/>\n<meta name=\"twitter:label1\" content=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minutos\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/latam.ptcbio.com\\\/es\\\/areas-terapeuticas\\\/fenilcetonuria\\\/\",\"url\":\"https:\\\/\\\/latam.ptcbio.com\\\/es\\\/areas-terapeuticas\\\/fenilcetonuria\\\/\",\"name\":\"Fenilcetonuria - 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