{"id":205,"date":"2023-01-11T05:01:13","date_gmt":"2023-01-11T05:01:13","guid":{"rendered":"https:\/\/pkudsehcp-dev-001.azurewebsites.net\/en-us\/phenylketonuria\/?page_id=205"},"modified":"2024-05-21T10:06:22","modified_gmt":"2024-05-21T10:06:22","slug":"overview","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/en-us\/pku\/overview\/","title":{"rendered":"What is PKU?"},"content":{"rendered":"<div id=\"acf-block-63f5c128b095a\" class=\"hero hero-no-overlay\">\n            <div class=\"hero-background-image hero-background-image-desktop\" style=\"background-image: url(https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2023\/06\/new-pku-internal-hero-2.jpg?v=0.88);\"><\/div>\n\t    <div class=\"hero-background-image hero-background-image-mobile\" style=\"background-image: url(https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2023\/03\/hero-815x800.jpg);\"><\/div>\n    \t<div class=\"overlay\"><\/div>\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"hero-content\">\n\t\t\t    \t\t\t\t\t\t\t\t\t\t\t\t    <h1>PKU: more than a diet disorder; it\u2019s a brain disorder<sup>1,2<\/sup>\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n<div id=\"acf-block-63f5c128b26e8\" class=\"block split-content equal-bias bg-band bg-band-white block-zero-top block-zero-bottom\" data-muted-autoplay=\"false\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t                                                                <div class=\"content-block first-block\">\n                                                                                                <h2>About PKU<\/h2>\n<p>Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism, which can have significant neurodevelopment sequelae<sup>1-3<\/sup><\/p>\n<ul>\n<li>Characterized by a deficiency of phenylalanine hydroxylase (PAH) enzymatic activity resulting in an inability to metabolize the amino acid Phe<sup>1<\/sup><\/li>\n<li>If not adequately controlled, elevated levels of Phe become neurotoxic and disrupt normal neurophysiology<sup>2,3<\/sup><\/li>\n<\/ul>\n                                                                                    <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                                                                                                                                                                                                    \n                                    \n                                                                                                                \n                                    \n                                    <figure>\n                                        <div class=\"image image-rounded\">\n                                                                                            <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2023\/02\/think_icon_with_title.svg\" alt=\"High blood Phe affects the way people with PKU think, feel, and act image\" \/>                                                                                    <\/div>\n                                                                            <\/figure>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-63f5c128b2760\" class=\"block split-content equal-bias bg-band bg-band-alternative block-zero-top block-zero-bottom\" data-muted-autoplay=\"false\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t                                                                <div class=\"content-block first-block\">\n                                                                                                <h2>PKU is diagnosed through newborn screening<\/h2>\n<p>In the United States and Europe, PKU is readily detected by PKU newborn screening, a blood test which was first instituted in the 1960s.<sup>1,6<\/sup><\/p>\n<p>PKU may be under-diagnosed as some countries have no screening or have only recently adopted newborn screening.<sup>8,9<\/sup><\/p>\n                                                                                    <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                                                                                                                                                                                                    \n                                    \n                                                                                                                \n                                    \n                                    <figure>\n                                        <div class=\"image image-rounded\">\n                                                                                            <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2023\/01\/prevalence_map.svg\" alt=\"Prevalence of PKU graphic\" \/>                                                                                    <\/div>\n                                                                            <\/figure>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-63f5c128b2781\" class=\"block wrapped-content block-tight-top block-zero-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-63f5c128b2794\" class=\"block-wysiwyg\">\n            <h2>Learn more about PKU<\/h2>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-663a53cf43050\" class=\"block call-to-action call-to-action-no-overlay\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\" style=\"background-image: url(https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2024\/03\/Screenshot-2024-03-12-at-16.59.18.png?v=0.88);\">\n\t\t\t\t<div class=\"overlay\"><\/div>\n\t\t\t\t<div class=\"cta-content\">\n\t\t\t\t                            <div class=\"cta-image\">\n                            <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2024\/02\/2.1_depression-Icon-card-ow.svg\" alt=\"\" \/>                        <\/div>\n                    \t\t\t\t\t<div class=\"cta-content-main\">\n                        <div class=\"content-block\">\n\t\t\t\t\t        \t\t\t\t\t        \t\t\t\t\t\t        <h2 class=\"h3\">Adults with PKU have many challenges.<sup>1,3<\/sup>\n<\/h2>\n\t\t\t\t\t\t    \t\t\t\t\t\t    \t\t\t\t\t    <\/div>\n\t\t\t\t\t                                <div class=\"content-block\">\n                                <p><a class=\"button button-arrow\" href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/pku-challenges\/\" target=\"_self\">Learn more<\/a><\/p>\n                            <\/div>\n\t\t\t\t\t                        <\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-63f5c128b2781\" class=\"block wrapped-content block-tight-top block-tight-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-63f5c128b2794\" class=\"block-wysiwyg\">\n            <p><small><strong>References:<\/strong> <strong>1.<\/strong> Ashe K, Kelso W, Farrand S, et al. Psychiatric and cognitive aspects of phenylketonuria: the limitations of diet and promise of new treatments. <em>Front Psychiatry<\/em>. 2019;10:561. doi:10.3389\/fpsyt.2019.00561. <strong>2.<\/strong> Gentile JK, Ten Hoedt AE, Bosch AM. Psychosocial aspects of PKU: hidden disabilities\u2014a review<em>. Mol Genet Metab.\u00a0<\/em>2010;99(suppl 1):S64-S67. <strong>3.<\/strong> Brown CS, Lichter-Konecki U. Phenylketonuria (PKU): a problem solved?\u00a0<em>Mol Genet Metab Rep<\/em>. 2016;6:8-12. <strong>4.<\/strong> Bilder DA, Noel JK, Baker ER, et al. Systematic review and meta-analysis of neuropsychiatric symptoms and executive functioning in adults with phenylketonuria.\u00a0<em>Dev Neuropsychol<\/em>. 2016;41(4):245-260. <strong>5.<\/strong> van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines of phenylketonuria: diagnosis and treatment.\u00a0<em>Orphanet J Rare Dis<\/em>. 2017;12(1):162. doi:10.1186\/s13023-017-0685-2. <strong>6. <\/strong>Vockley J, Andersson HC, Antshel KM, et al; American College of Medical Genetics and Genomics Therapeutic Committee. Phenylalanine hydroxylase deficiency: diagnosis and management guidelines.\u00a0<em>Genet Med<\/em>. 2014;16(2):188-200. <strong>7.<\/strong> Blau N, van Spronsen FJ, Levy HL. Phenylketonuria.\u00a0<em>Lancet<\/em>. 2010;376(9750):1417-1427. <strong>8.<\/strong> Pourfarzam M. Fouzieh Z. Newborn screening for inherited metabolic disorders: news and views.\u00a0<em>J Res Med Sci.<\/em> 2013;18(9):801-808. <strong>9.<\/strong> Rocha JC, MacDonald A. Treatment options and dietary supplements for patients with phenylketonuria.\u00a0<em>Expert Opin Orphan Drugs<\/em>. 2018;6(11):667-681.<\/small><\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":3,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-205","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>PKU Diagnosis | Phenylalanine Hydroxylase (PAH) Deficiency<\/title>\n<meta name=\"description\" content=\"Phenylketonuria (PKU) is an autosomal recessive metabolic disorder where excess levels of phenylalanine (Phe) disrupt normal neurophysiology.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, 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