{"id":851,"date":"2023-01-12T07:11:00","date_gmt":"2023-01-12T07:11:00","guid":{"rendered":"https:\/\/pkudsehcp-dev-001.azurewebsites.net\/en-us\/phenylketonuria\/?page_id=851"},"modified":"2024-08-27T20:43:26","modified_gmt":"2024-08-27T20:43:26","slug":"faqs","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/en-us\/pku\/hcp-resources\/faqs\/","title":{"rendered":"FAQs"},"content":{"rendered":"<div id=\"acf-block-6408986be6d1f\" 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\/01\/PKU_Tree_DSE_Website_Interior_2022_v1_RGB_FIN.jpg?v=0.89);\"><\/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        <ul class=\"breadcrumb\">\n\t\t\t            \t\t\t                                                                        <li><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/hcp-resources\/\">Resources<\/a><\/li>\n                            \t\t\t                                                                        <li>FAQs<\/li>\n                            \t\t\t            \t\t\t        <\/ul>\n\t\t\t    \t\t\t\t\t\t\t\t\t\t\t\t    <h1>Frequently asked questions about PKU\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t\n                <p class=\"inline-buttons\">\n                                                        <\/p>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n<div id=\"acf-block-6408986be6d47\" class=\"block wrapped-content bg-band block-zero-top block-tight-bottom block-remove-bottom-padding\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6408986be6d5d\" class=\"block-wysiwyg\">\n            <h2>Review common questions about PKU<\/h2>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6408986be6df8\" class=\"block accordion\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t                                                                                <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>Is PKU caused by a dominant or recessive gene?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p class=\"p1\">Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism caused by variants in the gene encoding the phenylalanine hydroxylase (PAH) enzyme.<sup>1-3<\/sup><\/p>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/genetics-and-pathophysiology\/\">Read More<\/a><\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>What type of gene variant causes PKU?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>Most cases (~98%) of PKU are caused by variants in the gene encoding the enzyme, phenylalanine hydroxylase (PAH). PAH defects can range from mild folding defects in the protein to absence or deficiency of PAH expression.<sup>3-5<\/sup><\/p>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/genetics-and-pathophysiology\/\">Read More<\/a><\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>What enzyme is missing in PKU?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>PKU is characterized by complete or partial deficiency of PAH enzymatic activity resulting in an inability to metabolize the amino acid Phe.<sup>4-5<\/sup><\/p>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/genetics-and-pathophysiology\/\">Read More<\/a><\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>How does PKU affect the brain?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>As the PAH enzyme catalyzes the hydroxylation of Phe to tyrosine (Tyr), conversion of Phe to Tyr is impaired. This causes the Phe to build up in the blood and brain, leading to a range of intellectual disabilities, as well as neurological, neuropsychiatric, and psychosocial consequences.<sup>4<\/sup><\/p>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/genetics-and-pathophysiology\/\">Read More<\/a><\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>Can PKU cause brain damage?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>If not adequately controlled, excess levels of Phe, which are toxic to the brain, disrupt normal neurophysiology. High Phe levels may lead to serious neurological and neuropsychological complications, affecting the way people with PKU think, feel, and act.<sup>1,2,6,7<\/sup><\/p>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/pku-challenges\/\">Read More<\/a><\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>PKU: how common is it?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>In the United States, the estimated prevalence of PKU is 1 case per 15,000 births.<sup>4<\/sup><\/p>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/overview\/\">Read More<\/a><\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>How long do you manage PKU?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>The American College of Medical Genetics and Genomics released guidelines in 2014 on the diagnosis and management of PKU: management should be started as early as possible and maintained for life; blood Phe levels should be maintained at \u2264360 \u03bcmol\/L throughout life; and any combination of therapies that helps keep blood Phe levels in the recommended range is appropriate.<sup>3<\/sup><\/p>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/goals-of-management\/\">Read More<\/a><\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>What are common symptoms of PKU?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>The effects of high Phe are felt throughout a patient\u2019s life.<sup>3,7<\/sup><\/p>\n<p>Young adults and adults with uncontrolled Phe can experience neurologic, psychiatric, and cognitive symptoms, including:<\/p>\n<ul>\n<li>Depression<\/li>\n<li>Anxiety<\/li>\n<li>Impairments in executive functioning<\/li>\n<li>Lower IQ than the general adult population<\/li>\n<\/ul>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/pku-challenges\/\">Read More<\/a><\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>What comorbidities are associated with PKU?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>The burden of PKU extends beyond the brain and into many aspects of adult life. Adults with PKU have an increased risk of several multisystemic comorbidities. <sup>8<\/sup><\/p>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/pku-challenges\/\">Read More<\/a><\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>How difficult is it to control blood Phe levels?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>Phe control typically drops off during adolescence, increasing the severity of neuropsychological symptoms and negatively impacting life trajectory.<sup>2,3<\/sup><\/p>\n<p>Young adults and adult patients can become trapped in a cycle of decline making dietary compliance and PKU management more difficult.<sup>6,9<\/sup><\/p>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/lifelong-burden\/\">Read More<\/a><\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>What is the diet for PKU?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>The mainstay of PKU treatment is lifelong dietary management with a Phe-restricted diet.<\/p>\n<p>A low-Phe diet consists of 3 main parts:<sup>3,10<\/sup><\/p>\n<ul>\n<li>Restriction of natural protein,<\/li>\n<li>Medical food\/formula\/supplements<\/li>\n<li>Modified low-protein foods<\/li>\n<\/ul>\n<p>While a Phe-restricted diet, remains the cornerstone of care for patients with PKU, there are challenges which may make strict adherence difficult for patients.<sup>3,11<\/sup><\/p>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/pku-diet\/\">Read More<\/a><\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>What is the bene\ufb01t of lowering blood Phe levels?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>Lowering Phe is recognized as the key strategy in managing PKU.<sup>3<\/sup><\/p>\n<p>Elevated levels of the Phe correlates with neuropsychological symptom severity, which generally improves with Phe reductions.<sup>3<\/sup><\/p>\n<p>Emerging clinical evidence suggests that additional benefits may be attained when Phe is below recommended levels.<sup>12,13<\/sup><\/p>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/goals-of-management\/\">Read More<\/a><\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>What are the current guidelines for PKU?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p class=\"p1\">US Guidelines recommend starting management as early as possible and maintaining Phe levels \u2264360 \u03bcmol\/L.<sup>3<\/sup><\/p>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/goals-of-management\/\">Read More<\/a><\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>How is PKU managed?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>Globally, the approach for PKU management has been a highly Phe-restricted diet, medical nutritional therapy, and low-protein foods. In combination with a low-Phe diet, prescription medications are also available.<sup>3,10<\/sup><\/p>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/pku\/pku-management-options\/\">Read More<\/a><\/p>\n                                                    <\/div>\n                    <\/div>\n                            \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-6408986be6e42\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-65e797f17b2a8\" class=\"block-wysiwyg\">\n            <p><small><strong>References: 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> Brown CS, Lichter-Konecki U. Phenylketonuria (PKU): a problem solved? <em>Mol Genet Metab Rep<\/em>. 2016;6:8-12. <strong>3.<\/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>4.<\/strong> Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. <em>Lancet<\/em>. 2010;376(9750):1417-1427. <strong>5.<\/strong> Rocha JC, MacDonald A. Treatment options and dietary supplements for patients with phenylketonuria. <em>Expert Opin Orphan Drugs<\/em>. 2018;6(11):667-681. <strong>6.<\/strong> Bilder DA, Noel JK, Baker ER, 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>7.<\/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\/s13023-017-0685-22. <strong>8.<\/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>9.<\/strong> Thomas J, Nguyen-Driver M, Bausell H, Breck J, Zambrano J, Birardi V. Strategies for successful long-term engagement of adults with phenylalanine hydroxylase deficiency returning to the clinic. <em>J Inborn Errors Metab Screen<\/em>. 2017;5:1-9. <strong>10.<\/strong> Rocha JC, MacDonald A. Dietary intervention in the management of phenylketonuria: current perspectives. <em>Pediatric Health Med Ther<\/em>. 2016;7:155-163. <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> Evinc SG, Pektas E, Foto-\u00d6zdemir D, et al. Cognitive and behavioral impairment in mild hyperphenylalaninemia. <em>Turk J Pediatr<\/em>. 2018;60(6):617-624. <strong>13.<\/strong> Jahja R, Huijbregts S, de Sonneville LMJ, van der Meere JJ, van Spronsen FJ. Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria. <em>J Pediatr<\/em>. 2014;164(4):895-899.<\/small><\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":3,"featured_media":0,"parent":847,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-851","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.4 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Phenylketonuria (PKU) Frequently Asked Questions (FAQs)<\/title>\n<meta name=\"description\" content=\"Review common questions and answers for phenylketonuria (PKU), a lifelong disorder whose true impact on patients and caregivers can be misunderstood.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, 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