{"id":18666,"date":"2026-06-30T19:40:29","date_gmt":"2026-06-30T17:40:29","guid":{"rendered":"https:\/\/panel.ptcbio.com\/es\/therapeutic-areas\/phenylketonuria\/"},"modified":"2026-07-09T21:09:32","modified_gmt":"2026-07-09T19:09:32","slug":"phenylketonuria","status":"publish","type":"page","link":"https:\/\/panel.ptcbio.com\/es\/therapeutic-areas\/phenylketonuria\/","title":{"rendered":"Phenylketonuria"},"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=\"\">Phenylketonuria (PKU)<\/h1><\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"hero__subtitle\">Metabolic condition caused by mutations to phenylalanine hydroxylase that can lead to cognitive disabilities and seizures<\/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:\/\/panel.ptcbio.com\/es\/\">\n\t\t\t\t\t\t\t<span class=\"sr-only\" itemprop=\"name\">Homepage<\/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:\/\/panel.ptcbio.com\/es\/therapeutic-areas\/\"\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\">Therapeutic Areas<\/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\">Phenylketonuria<\/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 decoding=\"async\" src=\"https:\/\/www.ptcbio.com\/wp-content\/uploads\/sites\/2\/2024\/06\/PKU-Symptoms.jpg\" alt=\"PKU Symptoms graphic\" class=\"wp-image-15594\" style=\"width:325px;height:auto\"\/><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=\"627\" height=\"631\" src=\"https:\/\/panel.ptcbio.com\/es\/wp-content\/uploads\/sites\/20\/2026\/06\/PKU-Symptoms.jpg\" class=\"attachment-full size-full\" alt=\"\" hidden=\"\" loading=\"eager\" srcset=\"https:\/\/panel.ptcbio.com\/es\/wp-content\/uploads\/sites\/20\/2026\/06\/PKU-Symptoms.jpg 627w, https:\/\/panel.ptcbio.com\/es\/wp-content\/uploads\/sites\/20\/2026\/06\/PKU-Symptoms-298x300.jpg 298w, https:\/\/panel.ptcbio.com\/es\/wp-content\/uploads\/sites\/20\/2026\/06\/PKU-Symptoms-150x150.jpg 150w, https:\/\/panel.ptcbio.com\/es\/wp-content\/uploads\/sites\/20\/2026\/06\/PKU-Symptoms-400x403.jpg 400w\" sizes=\"(max-width: 627px) 100vw, 627px\" \/><\/button><\/figure>\n\n\n\n<h4 id=\"h-what-is-phenylketonuria-nbsp\" class=\"wp-block-heading\">What is Phenylketonuria?&nbsp;<\/h4>\n\n\n\n<p class=\"wp-block-paragraph core-block core-paragraph\">Phenylketonuria (PKU) is a rare, inherited metabolic disease, which affects the brain.<sup>1<\/sup> It is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.<sup>1 <\/sup>If left untreated or poorly managed, phenylalanine \u2013 an essential amino acid found in all proteins and most foods \u2013 can build up to harmful levels in the body. This causes severe and irreversible disabilities, such as permanent intellectual disability, seizures, delayed development, memory loss, and behavioral and emotional problems.<sup>1<\/sup><\/p>\n\n\n\n<p class=\"wp-block-paragraph core-block core-paragraph\">Newborns with phenylketonuria initially don\u2019t have any symptoms, but symptoms are usually progressive, and damage caused by toxic levels of phenylalanine in the first few years of life is irreversible.<sup>2,3<\/sup><\/p>\n\n\n\n<p class=\"wp-block-paragraph core-block core-paragraph\">Diagnosis of phenylketonuria usually takes place during newborn screening programs.<sup>4<\/sup><\/p>\n\n\n\n<h4 id=\"h-how-common-is-phenylketonuria-nbsp-nbsp\" class=\"wp-block-heading\">How common is Phenylketonuria?&nbsp;&nbsp;<\/h4>\n\n\n\n<p class=\"wp-block-paragraph core-block core-paragraph\">There are an estimated 58,000 people with phenylketonuria globally. Males and females are equally likely to inherit the defective gene and develop phenylketonuria.<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full\"><img decoding=\"async\" src=\"https:\/\/www.ptcbio.com\/wp-content\/uploads\/sites\/2\/2024\/06\/PKU-Double-660x155-1.jpg\" alt=\"How common is PKU?\" class=\"wp-image-15691\"\/><\/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 quote-block--image color-theme--light-blue\">\n\n\t\t\t<img decoding=\"async\" src=\"https:\/\/panel.ptcbio.com\/es\/wp-content\/uploads\/sites\/20\/2026\/06\/NeilSmith.png\" class=\"quote-block__image\" alt=\"\"\/>\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\tWe know from our research that there is a large community of PKU patients that need more treatment options. We have also built incredible relationships within this community, including with patients and advocacy organizations. Helping this community is my mission and motivation, and my trust in science helps me stay focused and keeps pushing me forward.\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\tGlobal PKU Project Leader for PTC\t\t\t<\/cite>\n\t\t\t<\/div>\n\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\n\n<div  class=\"text-block text-block--standard color-theme--sky-blue-partial\">\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=\"\">Do you have questions?<\/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><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--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--primary\">Healthcare Professionals<\/a>\n\t\t\n\t\t\n\t<\/div>\n\n\t<\/div>\n<\/div>\n\n\n\n<div  class=\"text-block text-block--standard color-theme--white\">\n\t\t<div class=\"text-block__wrapper\" >\n\n\t\t\n\t\t\n\t\t<div class=\"text-block__content wysiwyg--decoration wysiwyg--color\">\n\t\t\t<p>Si usted es un profesional de la salud, visite <a href=\"http:\/\/www.ptccampus.es\/\">www.ptccampus.es<\/a> para m\u00e1s Informaci\u00f3n sobre PKU.<\/p>\n<p>PTC Campus est\u00e1 dirigido exclusivamente al profesional sanitario facultado para prescribir o dispensar medicamentos y requiere un registro previo.<\/p>\n\t\t<\/div>\n\n\t\t\n\t\t\n\t<\/div>\n<\/div>\n\n","protected":false},"excerpt":{"rendered":"<p>What is Phenylketonuria?&nbsp; Phenylketonuria (PKU) is a rare, inherited metabolic disease, which affects the brain.1 It is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.1 If left untreated or poorly managed, phenylalanine \u2013 an essential amino acid found in all proteins and most foods \u2013 can&hellip;<\/p>\n","protected":false},"author":14,"featured_media":0,"parent":18644,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-18666","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.9 (Yoast SEO v27.9) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Phenylketonuria - PTC Therapeutics (Spain)<\/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:\/\/panel.ptcbio.com\/es\/therapeutic-areas\/phenylketonuria\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Phenylketonuria\" \/>\n<meta property=\"og:description\" content=\"What is Phenylketonuria?&nbsp; 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