{"id":272,"date":"2023-01-11T12:19:31","date_gmt":"2023-01-11T12:19:31","guid":{"rendered":"https:\/\/pkudsehcp-dev-001.azurewebsites.net\/en-us\/phenylketonuria\/?page_id=272"},"modified":"2024-07-13T19:07:44","modified_gmt":"2024-07-13T19:07:44","slug":"pku-challenges","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/en-us\/pku\/pku-challenges\/","title":{"rendered":"Clinical Consequences"},"content":{"rendered":"<div id=\"acf-block-63f7515b0910c\" 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>The lifelong impact of PKU is<br \/>\nunderrecognized<sup>1-3<\/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-63f7515b0914a\" class=\"block wrapped-content bg-band bg-band-alternative block-zero-top block-zero-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-63f7515b09161\" class=\"block-wysiwyg\">\n            <h2>People with PKU can experience higher rates of serious neuropsychiatric symptoms<sup>4-6<\/sup><\/h2>\n    <\/div>\n\n<figure id=\"acf-block-63f7515b0917f\">\n    <div class=\"image image-responsive image-rounded\">\n                    <div class=\"image-desktop\">\n\t\t\t    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2024\/02\/2.1_Ratios@2x-1900x1333.png\" alt=\"\" \/>\t\t\t<\/div>\n\t\t\t<div class=\"image-mobile\">\n\t\t\t    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2023\/01\/Table-1.png?v=0.88\" alt=\"Estimated prevalence ratios of diagnoses for patients with PKU compared with the general population\" \/>\t\t\t<\/div>\n            <\/div>\n            <figcaption><p><em><small>*P&lt;0.05.<\/small><\/em><br \/>\n<small>Abbreviations: ADD, attention deficit disorder; ADHD, attention deficit hyperactivity disorder.<br \/>\nAdapted from Bilder et al. <em>Mol Genet Metab<\/em>. 2017.<\/small><\/p>\n<\/figcaption>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-63f7515b09199\" class=\"block wrapped-content bg-band bg-band-white block-zero-top block-zero-bottom block-remove-bottom-padding\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-63f7515b091b3\" class=\"block-wysiwyg\">\n            <h2>The effects of high Phe are felt throughout a patient\u2019s life<sup>1<\/sup><\/h2>\n<ul>\n<li>Controlling Phe levels in newborns and children prevents permanent intellectual disability<sup>1,6<\/sup><\/li>\n<li>However, adolescents and adults with uncontrolled Phe can experience neurologic, psychiatric, and cognitive symptoms, including:<sup>6<\/sup><\/li>\n<\/ul>\n    <\/div>\n\n<figure id=\"acf-block-65e0940795f05\">\n    <div class=\"image image-responsive image-rounded\">\n                    <div class=\"image-desktop\">\n\t\t\t    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2024\/02\/effects_dsktp2.svg\" alt=\"\" \/>\t\t\t<\/div>\n\t\t\t<div class=\"image-mobile\">\n\t\t\t    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2024\/02\/effects_mobile.svg\" alt=\"\" \/>\t\t\t<\/div>\n            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-65e0940796064\" class=\"block-wysiwyg\">\n            <h2 style=\"text-align: center\">Executive Function is Thought to be Particularly Affected<sup>7<\/sup><\/h2>\n    <\/div>\n\n<div id=\"acf-block-65e094079623f\" class=\"block boxed-content block-tight-top block-zero-bottom\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t\t\t\t\t\n<div id=\"acf-block-65e0940796064\" class=\"block-wysiwyg\">\n            <h5 style=\"text-align: center\"><strong>Executive function is a collection of cognitive skills required to self-regulate and organize mental efforts in order to achieve goals<sup>8<\/sup><\/strong><\/h5>\n    <\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-65e0940796293\" class=\"block boxed-content block-zero-top block-tight-bottom boxed-content-white\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t\t\t\t\t\n<div id=\"acf-block-65e0940796589\" class=\"image-text-block content-align-center block-tight-top block-tight-bottom\">\n            <div class=\"image-block small\">\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\/2024\/02\/2.1_Process-Speed-sq.ai_.svg\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                            <p><strong><\/p>\n<h5>Processing Speed<sup>7<\/sup><\/strong><\/h5>\n<p>Comprehension, ability to complete tasks, and school or work performance<\/p>\n                    <\/div>\n<\/div>\n\n<div id=\"acf-block-65e09407965ff\" class=\"image-text-block content-align-center block-tight-top block-tight-bottom\">\n            <div class=\"image-block small\">\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\/2024\/02\/2.1_Working-Memory.ai_.svg\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                            <h5><strong>Working Memory<sup>9<\/sup><\/strong><\/h5>\n<p>Ability to hold information in mind that will be used to guide one\u2019s actions; whether now or at a later point in time<\/p>\n                    <\/div>\n<\/div>\n\n<div id=\"acf-block-65e0940796667\" class=\"image-text-block content-align-center block-tight-top block-tight-bottom\">\n            <div class=\"image-block small\">\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\/2024\/02\/2.1_Attention.ai_.svg\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                            <h5><strong>Attention<sup>9<\/sup><\/strong><\/h5>\n<p>Ability to sustain attention or persistence of effort with tasks<\/p>\n                    <\/div>\n<\/div>\n\n<div id=\"acf-block-65e09407966cc\" class=\"image-text-block content-align-center block-tight-top block-tight-bottom\">\n            <div class=\"image-block small\">\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\/2024\/02\/2.1_Impulse-Control.ai_.svg\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                            <h5><strong>Impulse Control<sup>8,9<\/sup><\/strong><\/h5>\n<p>Self-regulation, such as control to avoid \u201coff-limit\u201d foods and refrain from outbursts or challenging behavior (critical for fulfilling responsibilities of adulthood)<\/p>\n                    <\/div>\n<\/div>\n\n<div id=\"acf-block-65e0940796737\" class=\"image-text-block content-align-center block-tight-top block-tight-bottom\">\n            <div class=\"image-block small\">\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\/2024\/02\/2.1_Planning-and-Organizing.ai_.svg\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                            <h5><strong>Planning and Organization<sup>8<\/sup><\/strong><\/h5>\n<p>Thinking out acts and purposes in advance; examples include meal planning, task planning, and thought organization<\/p>\n                    <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-65e0940796763\" class=\"block-wysiwyg\">\n            <h2 style=\"text-align: center\">Mental and emotional stress of PKU<sup>10<\/sup><\/h2>\n<p style=\"text-align: center\">Even patients with blood Phe \u2264500 \u03bcmol\/L in childhood showed a higher frequency of psychiatric diagnoses, such as:<\/p>\n    <\/div>\n\n<figure id=\"acf-block-65ddd850e88e1\">\n    <div class=\"image image-responsive image-rounded\">\n                    <div class=\"image-desktop\">\n\t\t\t    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2024\/03\/2.1_Effects_Of_PKU_Dsktp.gif?v=0.88\" alt=\"Effects Of PKU\" \/>\t\t\t<\/div>\n\t\t\t<div class=\"image-mobile\">\n\t\t\t    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2024\/03\/2.1_Effects_Of_PKU_Mbl.gif?v=0.88\" alt=\"\" \/>\t\t\t<\/div>\n            <\/div>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"Quotes\" class=\"block wrapped-content bg-band bg-band-secondary block-zero-top block-zero-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-65dddb181317e\" class=\"block-wysiwyg\">\n            <h2 style=\"text-align: center\">Patients and their caregivers struggle with PKU symptoms<sup>11<\/sup><\/h2>\n    <\/div>\n\n<div id=\"acf-block-65ddda6319055\" class=\"block quote block-zero-top block-tight-bottom\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t<div class=\"quote-content\">\n\t\t\t\t    \t\t\t\t\t<div class=\"content-block\">\n\t\t\t\t\t\t<blockquote>\n\t\t\t\t\t\t    \t\t\t\t\t\t\t    <p>When you can cause irreversible brain damage to your child, it causes a lot of worry, stress, and even panic.<sup>11<\/sup><\/p>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t    <cite> <span>Parent<\/span><\/cite>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/blockquote>\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-65dddbae4a9c4\" class=\"block quote block-tight-top block-tight-bottom\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t<div class=\"quote-content\">\n\t\t\t\t    \t\t\t\t\t<div class=\"content-block\">\n\t\t\t\t\t\t<blockquote>\n\t\t\t\t\t\t    \t\t\t\t\t\t\t    <p>I have blank moments where I can\u2019t think or get my words out that I am trying to say. I experience anxiety and I get paranoid.<sup>11<\/sup><\/p>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t    <cite> <span>Patient with PKU<\/span><\/cite>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/blockquote>\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-65dddbae4aa33\" class=\"block quote block-tight-top block-zero-bottom\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t<div class=\"quote-content\">\n\t\t\t\t    \t\t\t\t\t<div class=\"content-block\">\n\t\t\t\t\t\t<blockquote>\n\t\t\t\t\t\t    \t\t\t\t\t\t\t    <p>I get \u201cbrain fog\u201d, tend to become irritable and uneasy in social settings.<sup>11<\/sup><\/p>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t    <cite> <span>Patient with PKU<\/span><\/cite>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/blockquote>\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        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-65dddd08a79b0\" class=\"block wrapped-content bg-band bg-band-alternative block-zero-top block-tight-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-65dddd08a7b75\" class=\"block-wysiwyg\">\n            <h2>The burden of PKU extends beyond the brain and into many aspects of adult life<sup>12<\/sup><\/h2>\n<p>Adults with PKU have an increased risk of several multisystemic comorbidities<\/p>\n<p>&nbsp;<\/p>\n    <\/div>\n\n<figure id=\"acf-block-65dde4c090dd5\">\n    <div class=\"image\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2024\/05\/Prevalence-ratio-graph-1900x1508.png\" alt=\"Prevalence ratio graph\" \/>            <\/div>\n            <figcaption><p><small>Adapted from Burton et al. <em>Mol Genet Metab<\/em>. 2018.<\/small><\/p>\n<\/figcaption>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-65ddfb94742ae\" class=\"block fact-box\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t    \t\t\t<div class=\"box\">\n\t\t\t\t\t\t\t\t    <h3>Patients with PKU struggle to maintain safe blood Phe levels<sup>13,14<\/sup>\n<\/h3>\n\t\t\t\t\t\t\t\t\t\t\t\t                    <ul class=\"facts\">\n                                                                                                            <li>A Phe-restricted diet is burdensome and can provide inadequate protein intake unless supplemented with medical nutrition therapy<sup>1,15<\/sup>\n<\/li>\n                                                                                                            <li>Phe control typically drops off during adolescence<sup>1,13<\/sup>\n<\/li>\n                                                                                                            <li>By adulthood, most patients in the United States have Phe levels exceeding guideline recommendations<sup>13,14<\/sup>\n<\/li>\n                                            <\/ul>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-65ddfb9474ef5\" class=\"block split-content equal-bias\" 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                                                                                                                                                                                                                                                <div class=\"video-poster\">\n\t\t\t                            <a class=\"modal-video permitted\" href=\"https:\/\/player.vimeo.com\/video\/834482531?autoplay=1\" style=\"background-image: url(https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2023\/04\/Connie-Thumbnail--1500x921.jpg);\">Play<\/a>\n\t\t                            <\/div>\n\t\t                                                                            <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                <p><strong>Connie: Learning to Focus on Herself<\/strong><br \/>\nSee how returning to clinic afer 50 years helped Connie achieve the best Phe levels of her life.<\/p>\n                                                                                                                                                                                                                                                                                                                                                                                                                                                                        <p><a class=\"button button-download\" href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2024\/02\/Connie-PKU-Video-Transcript.pdf?v=0.58\" target=\"_blank\">View transcript <\/a><\/p>\n                                                                                                                        <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-65ddfb9474f5d\" 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-65ddfb94750b0\" class=\"block-wysiwyg\">\n            <h2>Learn more about PKU<\/h2>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-65ddfb94752fb\" class=\"block cards cards-3-col block-tight-top\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"cards-title\">\n\t\t\t    \t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"cards-wrapper\">\n\t\t\t    \n<div id=\"acf-block-65ddfb947596f\" class=\"card card-product card-fixed-button card-centered\" data-muted-autoplay=\"false\">\n    \t    \n\n                    <img decoding=\"async\" class=\"card-image\" src=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2024\/02\/article_card_icon.svg\" alt=\"\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>Learn more about elevated Phe and symptoms\n<\/h4>\n        \n                                                                                                                                                                                                                                                                                    \n                                                                                        <\/div>\n                                <div class=\"card-actions\">\n                            \n                            <p><a class=\"button button-download\" href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2023\/05\/PKU-HCP-Publication-Summary-1.pdf?v=0.72\" target=\"_blank\">Download article <\/a><\/p>\n                                                                                    <\/div>\n<\/div>\n\n<div id=\"acf-block-65ddfb9475a07\" class=\"card card-product card-fixed-button card-centered\" data-muted-autoplay=\"false\">\n    \t    \n\n                    <img decoding=\"async\" class=\"card-image\" src=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2024\/02\/protein_card_icon.svg\" alt=\"\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>Learn more about dietary control with PKU\n<\/h4>\n        \n                                                                                                                                                                                                                                                                                    \n                                                                                        <\/div>\n                                <div class=\"card-actions\">\n                            \n                            <p><a class=\"button\" href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/pku-diet\/\" target=\"_self\">Go to Phe-restricted diet<\/a><\/p>\n                                                                                    <\/div>\n<\/div>\n\n<div id=\"acf-block-65ddfb9475a85\" class=\"card card-product card-fixed-button card-centered\" data-muted-autoplay=\"false\">\n    \t    \n\n                    <img decoding=\"async\" class=\"card-image\" src=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/wp-content\/uploads\/sites\/2\/2024\/02\/question_card_icon.svg\" alt=\"\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>Know your PKU management options\n<\/h4>\n        \n                                                                                                                                                                                                                                                                                    \n                                                                                        <\/div>\n                                <div class=\"card-actions\">\n                            \n                            <p><a class=\"button\" href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/talking-to-your-patients\/pku-management-options\/\" target=\"_self\">Learn more<\/a><\/p>\n                                                                                    <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-65ddfb9474f5d\" 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-65ddfb94750b0\" class=\"block-wysiwyg\">\n            <p><small><strong>References:<\/strong> <strong>1.<\/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. <em>Genet Med<\/em>. 2014;16(2):188-200. <strong>2.<\/strong> ten Hoedt AE, de Sonneville LMJ, Francois B, et al. High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial. <em>J Inherit Metab Dis<\/em>. 2011;34(1):165-171. <strong>3.<\/strong> Trefz KF, Muntau AC, Kohlscheen KM, et al. Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities\u2015a retrospective study of German health insurance claims data.\u00a0<em>Orphanet J Rare Dis<\/em>. 2019;14(1):181. doi:10.1186\/s13023-019-1153-y. <strong>4.<\/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>5.<\/strong> Bilder DA, Kobori JA, Cohen-Pfeffer JL, Johnson EM, Jurecki ER, Grant ML. Neuropsychiatric comorbidities in adults with phenylketonuria: a retrospective cohort study. <em>Mol Genet Metab<\/em>. 2017;12(1):1-8. <strong>6.<\/strong> van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines of phenylketonuria: diagnosis and treatment. <em>Orphanet J Rare Dis<\/em>. 2017;12(1):162. doi: 10.1186\/s13023-017-0685-2. <strong>7.<\/strong> Bone A, Kuehl A, Angelino A. A neuropsychiatric perspective of phenylketonuria I; overview of phenylketonuria and its neuropsychiatric sequelae. <em>Psychosomatics<\/em>. 2012;53(6):517\u2013523. <strong>8.<\/strong> Bilder DA, et al. Systematic review and meta-analysis of neuropsychiatric symptoms and executive functioning in adults with phenylketonuria. <em>Dev Neuropsychol<\/em>. 2016;41(4):245-260. <strong>9.<\/strong> Diamond A. Executive functions. <em>Annu Rev Psychol<\/em>. 2013;64:135-168. <strong>10.<\/strong> Manti F, Nardecchia F, Chiarotti F, Carducci C, Leuzzi V. Psychiatric disorders in adolescent and young adult patients with phenylketonuria. <em>Mol Genet Metab<\/em>. 2016;117(1):12-18. <strong>11.<\/strong> Ford S, O\u2019Driscoll M, MacDonald A. Living with phenylketonuria: lessons from the PKU community. <em>Mol Genet Metab Rep<\/em>. 2018;17:57-63. <strong>12.<\/strong> Burton BK, Jones KB, Cederbaum S, et al. Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria. <em>Mol Genet Metab<\/em>. 2018;125(3):228-234. <strong>13.<\/strong> Brown CS, Lichter-Konecki U. Phenylketonuria (PKU): a problem solved? <em>Mol Genet Metab Rep<\/em>. 2016;6:8-12. <strong>14.<\/strong> Jurecki ER, Cederbaum S, Kopesky J, et al. Adherence to clinic recommendations among patients with phenylketonuria in the United States. <em>Mol Genet Metab<\/em>. 2017;120(3):190-197. <strong>15.<\/strong> van Spronsen FJ, van Wegberg AMJ, Ahring K, et al. Key European guidelines for the diagnosis and management of patients with phenylketonuria. <em>Lancet Diabetes Endocrinol<\/em>. 2017;5(9):743-756.<\/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-272","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>Elevated Blood Phe Consequences l Phenylketonuria (PKU)<\/title>\n<meta name=\"description\" content=\"High phenylalanine (Phe) levels can lead to serious neurological and neuropsychological complications and the lifelong burden is underrecognized.\" \/>\n<meta name=\"robots\" content=\"index, follow, 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