{"id":210,"date":"2023-01-11T05:07:15","date_gmt":"2023-01-11T05:07:15","guid":{"rendered":"https:\/\/pkudsehcp-dev-001.azurewebsites.net\/pt-br\/?page_id=210"},"modified":"2024-09-03T10:37:53","modified_gmt":"2024-09-03T10:37:53","slug":"genetica-e-fisiopatologia","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/pt-br\/pku\/genetica-e-fisiopatologia\/","title":{"rendered":"Gen\u00e9tica e Patofisiologia"},"content":{"rendered":"<div id=\"acf-block-63f5bff5e4f75\" class=\"hero hero-no-overlay\">\n            <div class=\"hero-background-image hero-background-image-desktop\" style=\"background-image: url(https:\/\/hcp.biomarin.com\/pt-br\/pku\/wp-content\/uploads\/sites\/4\/2023\/12\/PT-hero-PKU-2000x745-1.jpg?v=0.90);\"><\/div>\n\t    <div class=\"hero-background-image hero-background-image-mobile\" style=\"background-image: url(https:\/\/hcp.biomarin.com\/pt-br\/pku\/wp-content\/uploads\/sites\/4\/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>Fenilceton\u00faria: uma doen\u00e7a rara, autoss\u00f4mica recessiva<sup>1,2<\/sup>\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-63f5bff5e6d1b\" 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>Gen\u00e9tica da fenilceton\u00faria (PKU)<\/h2>\n<ul>\n<li>A fenilceton\u00faria (PKU) \u00e9 causada por variantes no gene PAH, que codifica a enzima fenilalanina hidroxilase (PAH).<sup>3,4<\/sup><\/li>\n<li>O gene PAH \u00e9 expressado principalmente no f\u00edgado<sup>3<\/sup><\/li>\n<li>Os defeitos da PAH podem variar desde defeitos leves de dobramento na prote\u00edna at\u00e9 a aus\u00eancia ou defici\u00eancia desde express\u00e3o da PAH<sup>2<\/sup><\/li>\n<li>A defici\u00eancia de PAH apresenta um espectro de gravidade. Os mais graves s\u00e3o os indiv\u00edduos com defici\u00eancia enzim\u00e1tica completa, ou PKU cl\u00e1ssica (n\u00edveis de fenilalanina [Phe] no sangue &gt;1200 \u00b5mol\/L).<sup>2<\/sup><\/li>\n<li>Como a PAH catalisa a hidroxila\u00e7\u00e3o de Phe em tirosina (Tyr), a defici\u00eancia de PAH prejudica a convers\u00e3o de Phe em Tyr. Isso faz com que o amino\u00e1cido Phe se acumule no sangue e no c\u00e9rebro, podendo levar a defici\u00eancia intelectual, bem como a consequ\u00eancias neurol\u00f3gicas, neuropsiqui\u00e1tricas e psicossociais.<sup>3<\/sup><\/li>\n<li>A PKU \u00e9 uma doen\u00e7a heredit\u00e1ria autoss\u00f4mica recessiva. Aqueles que t\u00eam apenas uma muta\u00e7\u00e3o da PAH (por exemplo, pais de uma crian\u00e7a com fenilceton\u00faria) s\u00e3o portadores e n\u00e3o apresentam nenhuma das caracter\u00edsticas bioqu\u00edmicas ou cl\u00ednicas da PKU.<sup>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\/pt-br\/pku\/wp-content\/uploads\/sites\/4\/2023\/10\/chemical_structure_PT.svg\" alt=\"Estrutura qu\u00edmica da imagem Phe\" \/>                                                                                    <\/div>\n                                                                            <\/figure>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-63f5bff5e6d62\" class=\"block wrapped-content bg-band bg-band-white block-zero-top block-zero-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-63f5bff5e6d7a\" class=\"block-wysiwyg\">\n            <h2>N\u00edveis altos e\/ou vari\u00e1veis de Fenilalanina (Phe) podem ter efeitos neurot\u00f3xicos no c\u00e9rebro<sup>6<\/sup><\/h2>\n    <\/div>\n\n<figure id=\"acf-block-63f5bff5e6d91\">\n    <div class=\"image image-responsive image-rounded image-align-left\">\n                    <div class=\"image-desktop\">\n\t\t\t    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/pt-br\/pku\/wp-content\/uploads\/sites\/4\/2024\/04\/blood_brain_barrier_infographic_PT_NEW.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\/pt-br\/pku\/wp-content\/uploads\/sites\/4\/2024\/04\/blood_brain_barrier_infographic_PT_Mobile_NEW.svg\" alt=\"\" \/>\t\t\t<\/div>\n            <\/div>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-63f5bff5e6da3\" 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-63f5bff5e6db3\" class=\"block-wysiwyg\">\n            <h2>A eleva\u00e7\u00e3o de Phe no c\u00e9rebro afeta a morfologia normal da subst\u00e2ncia branca e prejudica a s\u00edntese de neurotransmissores<sup>10<\/sup><\/h2>\n    <\/div>\n\n<figure id=\"acf-block-63f5bff5e6dc6\">\n    <div class=\"image image-rounded image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/pt-br\/pku\/wp-content\/uploads\/sites\/4\/2024\/04\/brain_infographic_PT_NEW.svg\" alt=\"\" \/>            <\/div>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-63f5bff5e6dd7\" 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-63f5bff5e6de8\" class=\"block-wysiwyg\">\n            <h2>Saiba mais sobre PKU<\/h2>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-63f5bff5e6dfb\" class=\"block cards cards-2-col block-tight-top block-tight-bottom\">\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-63f5bff5e6e16\" class=\"card card-product card-fixed-button\" data-muted-autoplay=\"false\">\n    \t    \n\n                    <img decoding=\"async\" class=\"card-image\" src=\"https:\/\/hcp.biomarin.com\/pt-br\/pku\/wp-content\/uploads\/sites\/4\/2023\/01\/adult_pku_icon_new.svg\" alt=\"Desafios adultos no \u00edcone PKU\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>Saiba mais sobre os desafios da PKU em adultos<sup>1,15<\/sup>\n<\/h4>\n        \n                                                                                                                                                                                                                                                                                    \n                                                                                        <\/div>\n                                <div class=\"card-actions\">\n                            \n                            <p><a class=\"button button-arrow\" href=\"https:\/\/hcp.biomarin.com\/pt-br\/pku\/historias-de-pacientes\/\" target=\"_self\">Ou\u00e7a hist\u00f3rias de pacientes<\/a><\/p>\n                                                                                    <\/div>\n<\/div>\n\n<div id=\"acf-block-63f5bff5e6e3b\" class=\"card card-product card-fixed-button\" data-muted-autoplay=\"false\">\n    \t    \n\n                    <img decoding=\"async\" class=\"card-image\" src=\"https:\/\/hcp.biomarin.com\/pt-br\/pku\/wp-content\/uploads\/sites\/4\/2023\/02\/phe.svg\" alt=\"Acima do \u00edcone do intervalo Phe alvo\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>67% dos adultos com PKU est\u00e3o acima das faixas de Phe recomendadas<sup>16<\/sup>\n<\/h4>\n        \n                                                                                                                                                                                                                                                                                    \n                                                                                        <\/div>\n                                <div class=\"card-actions\">\n                            \n                            <p><a class=\"button button-arrow\" href=\"https:\/\/hcp.biomarin.com\/pt-br\/pku\/necessidade-nao-atendida\/\" target=\"_self\">Saiba por qu\u00ea<\/a><\/p>\n                                                                                    <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"conecte-se-conosco\" class=\"block hcp-sign-up-form\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                            <h2>Mantenha-se conectado com as informa\u00e7\u00f5es mais recentes sobre PKU\n<\/h2>\n                        <div class=\"block form-box\">\n                                    <p>Registre-se abaixo para entrar em contato com um representante da BioMarin, saber mais sobre os pr\u00f3ximos eventos e\/ou not\u00edcias sobre PKU ou solicitar uma discuss\u00e3o entre pares.<\/p>\n<p><strong>* Campos obrigat\u00f3rios<\/strong><\/p>\n                \n                <form id=\"hcp-sign-up\" name=\"Stay connected with the latest PKU information\">\n                    <div class=\"form-item check-item\">\n                        <input type=\"checkbox\" id=\"connect-local-rep\" name=\"connect_local_rep\">\n                        <label for=\"connect-local-rep\">Conecte-se com um representante local da BioMarin<\/label>\n                    <\/div>\n\n                    <div class=\"form-item\">\n                        <label for=\"first-name\">Primeiro nome<span class=\"required\">*<\/span><\/label>\n                        <input class=\"text\" id=\"first-name\" type=\"text\" required\n                        data-pristine-required-message=\"Digite seu primeiro nome.\">\n                    <\/div>\n\n                    <div class=\"form-item\">\n                        <label for=\"last-name\">Sobrenome<span class=\"required\">*<\/span><\/label>\n                        <input class=\"text\" id=\"last-name\" type=\"text\" required\n                        data-pristine-required-message=\"Digite seu sobrenome.\">\n                    <\/div>\n\n                    <div class=\"form-item\">\n                        <label for=\"medical-speciality\">Especialidade<span class=\"required\">*<\/span><\/label>\n                        <select class=\"text\" id=\"medical-speciality\" required\n                        data-pristine-required-message=\"Selecione sua especialidade m\u00e9dica.\">\n                            <option value=\"\">Por favor, selecione<\/option>\n                            <option value=\"Anesthesiology\">Anestesiologia<\/option>\n                            <option value=\"Audiology\">Audiologia<\/option>\n                            <option value=\"Behavioral Neurology &#038; Neuropsychiatry\">Neurologia e Neuropsiquiatria Comportamental<\/option>\n                            <option value=\"Biology\">Biologia<\/option>\n                            <option value=\"Biomedical Engineering\">Engenharia Biom\u00e9dica<\/option>\n                            <option value=\"Cardiology\">Cardiologia<\/option>\n                            <option value=\"Clinical Biochemical Genetics\">Bioqu\u00edmica em Gen\u00e9tica Cl\u00ednica<\/option>\n                            <option value=\"Dentistry and Odontology\">Odontologia<\/option>\n                            <option value=\"Dermatology\">Dermatologia<\/option>\n                            <option value=\"Diagnostic Radiology\">Radiologia Diagn\u00f3stica<\/option>\n                            <option value=\"Electoencephalography\">Eletroencefalografia<\/option>\n                            <option value=\"Endocrinology, Diabetes &#038; Metabolism\">Endocrinologia, Diabetes e Metabolismo<\/option>\n                            <option value=\"ENT\/Otorhinolaryngologist\">Otorrinolaringologista<\/option>\n                            <option value=\"Epileptology\">Epileptologia<\/option>\n                            <option value=\"Gastroenterology\">Gastroenterologia<\/option>\n                            <option value=\"General Practice\/Family\">Cl\u00ednica Geral\/M\u00e9dico de Fam\u00edlia<\/option>\n                            <option value=\"Genetics\">Gen\u00e9tica<\/option>\n                            <option value=\"Hearing and Speech\">Fonoaudiologia<\/option>\n                            <option value=\"Hematology\">Hematologia<\/option>\n                            <option value=\"Hematology &#038; Oncology\">Hematologia e Oncologia<\/option>\n                            <option value=\"Hepatology\">Hepatologia<\/option>\n                            <option value=\"Infectious Diseases\">Infectologia<\/option>\n                            <option value=\"Intensive Care\">Tratamento Intensivo<\/option>\n                            <option value=\"Internal Medicine\">Medicina Interna<\/option>\n                            <option value=\"Kinesiology\">Cinesiologia<\/option>\n                            <option value=\"Laboratory Management\">An\u00e1lises Laboratoriais\/Exames Cl\u00ednicos<\/option>\n                            <option value=\"Medical Student\">Estudante de medicina<\/option>\n                            <option value=\"Neonatology\">Neonatologia<\/option>\n                            <option value=\"Nephrology\">Nefrologia<\/option>\n                            <option value=\"Neurology\">Neurologia<\/option>\n                            <option value=\"Neuromuscular Medicine\">Medicina Neuromuscular<\/option>\n                            <option value=\"Nutrition, Metabolic\">Nutri\u00e7\u00e3o metab\u00f3lica<\/option>\n                            <option value=\"Obstetrics\">Obstetr\u00edcia<\/option>\n                            <option value=\"Occupation Health\">Sa\u00fade Ocupacional<\/option>\n                            <option value=\"Oncology\">Oncologia<\/option>\n                            <option value=\"Ophthalmology\">Oftalmologia<\/option>\n                            <option value=\"Orthopedics\">Ortopedia<\/option>\n                            <option value=\"Paliative\/Hospice\">Paliativo<\/option>\n                            <option value=\"Pediatric Allergy\/Immunology\">Alergia\/Imunologia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Anesthesiology\">Anestesiologia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Cardiology\">Cardiologia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Dentistry\">Dentista Pedi\u00e1trico<\/option>\n                            <option value=\"Pediatric Endocrinology\">Endocrinologia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Endocrinology, Diabetes &#038; Metabolism\">Endocrinologia Pedi\u00e1trica, Diabetes e Metabolismo<\/option>\n                            <option value=\"Pediatric ENT\">Otorrinolaringologia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Gastroenterology\">Gastroenterologia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Gastroenterology &#038; Metabolism\">Gastroenterologia Pedi\u00e1trica e Metabolismo<\/option>\n                            <option value=\"Pediatric Genetics\">Gen\u00e9tica Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Hematology\">Hematologia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Hematology-Oncology\">Hematologia-Oncologia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Metabolism\">Metabolismo Pedi\u00e1trico<\/option>\n                            <option value=\"Pediatric Neurology\">Neurologia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Neurosurgery\">Neurocirurgia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Oncology\">Oncologia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Ophthalmology and Strabismus Specialist\">Especialista em oftalmologia pedi\u00e1trica e estrabismo<\/option>\n                            <option value=\"Pediatric Orthopedics\">Ortopedia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Pneumology\">Pneumologia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Radiology\">Radiologia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Rheumatology\">Reumatologia Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatrics\">Pediatria<\/option>\n                            <option value=\"Phonoaudiology\">Fonoaudiologia<\/option>\n                            <option value=\"Physiatry\">Fisiatria<\/option>\n                            <option value=\"Physician Assistant\">M\u00e9dico Assistente<\/option>\n                            <option value=\"Physiotherapy\">Fisioterapia<\/option>\n                            <option value=\"Primary Care\">Cuidados Prim\u00e1rios<\/option>\n                            <option value=\"Psychology\/Psychiatry\">Psicologia\/Psiquiatria<\/option>\n                            <option value=\"Pulmonology\">Pneumologia<\/option>\n                            <option value=\"Radiology (MRI imaging)\">Radiologia<\/option>\n                            <option value=\"Research\">Pesquisador<\/option>\n                            <option value=\"Rheumatology\">Reumatologia<\/option>\n                            <option value=\"Surgery\">Cirurgia<\/option>\n                            <option value=\"Traumatology\">Traumatologia<\/option>\n                            <option value=\"Unknown\">Outro<\/option>\n                        <\/select>\n                    <\/div>\n\n                    <div class=\"form-item\">\n                        <label for=\"email\">Endere\u00e7o de e-mail<span class=\"required\">*<\/span><\/label>\n                        <input class=\"text\" id=\"email\" type=\"email\" required\n                        data-pristine-required-message=\"Digite seu endere\u00e7o de e-mail.\"\n                        data-pristine-email-message=\"Esse campo requer um endere\u00e7o de e-mail v\u00e1lido.\">\n                    <\/div>\n\n                    <div class=\"form-item\">\n                        <label for=\"state\">Estado<span class=\"required\">*<\/span><\/label>\n                        <input class=\"text\" id=\"state\" type=\"text\" required\n                        data-pristine-required-message=\"Digite seu estado.\">\n                    <\/div>\n\n                    <div class=\"form-item check-item\">\n                        <input type=\"checkbox\" id=\"accept-ts-cs\" name=\"accept_ts_cs\" required\n                        data-pristine-required-message=\"Por favor, aceite os termos de uso.\">\n                        <label for=\"accept-ts-cs\">Ao marcar a caixa \u00e0 esquerda e clicar em &#8220;Enviar&#8221; abaixo, eu confirmo que tenho pelo menos 18 anos de idade; e confirmo que concordo com a <a href=\"https:\/\/www.biomarin.com\/data-privacy-center\/\" target=\"_blank\">Pol\u00edtica de Privacidade<\/a> e <a href=\"https:\/\/medinfoterms.com\/\" target=\"_blank\">Termos de Uso da BioMarin<\/a>; consinto que a BioMarin, seus sucessores, agentes e\/ou cession\u00e1rios usem o endere\u00e7o de e-mail que forneci para me manter informado sobre atualiza\u00e7\u00f5es de not\u00edcias e desenvolvimentos sobre a PKU; e confirmo que entendo que essas comunica\u00e7\u00f5es\/materiais podem conter informa\u00e7\u00f5es que comercializam ou anunciam produtos, bens ou servi\u00e7os da BioMarin.<span class=\"required\">*<\/span><\/label>\n                    <\/div>\n\n                    <div class=\"form-item\">\n                        <input type=\"submit\" class=\"button\" value=\"Enviar\">\n                    <\/div>\n                <\/form>\n                <form id=\"mktoForm_3470\" style=\"display:none;\"><\/form>\n            <\/div>\n\n            <div class=\"block form-success-confirmation\" style=\"display:none;\">\n                                    <h3>Muito obrigado!<\/h3>\n<p>Entraremos em contato em breve com informa\u00e7\u00f5es adicionais.<\/p>\n                                            <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-63f5bff5e6ea3\" class=\"block references block-tight-top\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t    \t\t\t    <h4>Refer\u00eancias:\n<\/h4>\n\t\t\t\t\t\t                <ol>\n                                                                                                                        <li><span>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.\n<\/span><\/li>\n                                                                                                                                                <li><span>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.\n<\/span><\/li>\n                                                                                                                                                <li><span>Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. <em>Lancet<\/em>. 2010;376(9750):1417-1427.\n<\/span><\/li>\n                                                                                                                                                <li><span>Rocha JC, MacDonald A. Treatment options and dietary supplements for patients with phenylketonuria. <em>Expert Opin Orphan Drugs<\/em>. 2018;6(11):667-681.\n<\/span><\/li>\n                                                                                                                                                <li><span>National Library of Medicine. Compound summary: phenylalanine. Published September 16, 2004. Updated December 10, 2022. Accessed December 15, 2022. https:\/\/pubchem.ncbi.nim.nih.gov\/compound\/Phenylalanine.\n<\/span><\/li>\n                                                                                                                                                <li><span>Anastoasoaie V, Kurzius L, Forbes P, Waisbren S. Stability of blood phenylalanine levels and IQ in children with phenylketonuria<em>. Mol Genet Metab<\/em>. 2008;95(1-2):17-20.\n<\/span><\/li>\n                                                                                                                                                <li><span>de Groot MJ, Hoeksma M, Blau N, Reijngoud DJ, van Spronsen FJ. Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. <em>Mol Genet Metab<\/em>. 2010;99(suppl 1):S86-S89.\n<\/span><\/li>\n                                                                                                                                                <li><span>Schuck PF, Malgarin F, Cararo JH, Cardoso F, Streck EL, Ferreira GC. Phenylketonuria pathophysiology: on the role of metabolic alterations. <em>Aging Dis<\/em>. 2016;6(5):390-399.\n<\/span><\/li>\n                                                                                                                                                <li><span>Sanayama Y, Nagasaka H, Takayanagi M, et al. Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria. <em>Mol Genet Metab<\/em>. 2011;103(3):220-225.\n<\/span><\/li>\n                                                                                                                                                <li><span>Anderson PJ, Leuzzi V. White matter pathology in phenylketonuria. <em>Mol Genet Metab<\/em>. 2010;99(suppl 1):S3-S9.\n<\/span><\/li>\n                                                                                                                                                <li><span>Christ SE, Price MH, Bodner KE, Saville C, Moffitt AJ, Peck D. Morphometric analysis of gray matter integrity in individuals with early-treated phenylketonuria<em>. Mol Genet Metab<\/em>. 2016;118(1):3-8.\n<\/span><\/li>\n                                                                                                                                                <li><span>Adler-Abramovich, LA, Vaks L, Carny O, et al. Phenylalanine assembly into toxic fibrils suggest amyloid etiology in phenylketonuria. <em>Nat Chem Biol<\/em>. 2012;8(8):701-706.\n<\/span><\/li>\n                                                                                                                                                <li><span>White DA, Antenor-Dorsey JV, Grange DK, et al. White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria. <em>Mol Genet Metab<\/em>. 2013;110(3):213\u2013217.\n<\/span><\/li>\n                                                                                                                                                <li><span>Cleary MA, Walter JH, Wraith JE, White F, Tyler K, Jenkins JP. Magnetic resonance imaging in phenylketonuria: Reversal of cerebral white matter change. <em>J Pediatr<\/em>. 1995;127(2):251\u2013255.\n<\/span><\/li>\n                                                                                                                                                <li><span>Brown CS, Lichter-Konecki U. Phenylketonuria (PKU): a problem solved? <em>Mol Genet Metab Rep<\/em>. 2016;6:8-12.\n<\/span><\/li>\n                                                                                                                                                <li><span>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.\n<\/span><\/li>\n                                                            <\/ol>\n\t\t\t\t\t<\/div>\n\t<\/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-210","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gen\u00e9tica e fisiopatologia | Doen\u00e7a rara, causa pela defici\u00eancia de fenilalanina (PAH)<\/title>\n<meta name=\"description\" content=\"Fenilceton\u00faria (PKU): um erro inato autoss\u00f4mico recessivo do metabolismo da fenilalanina (Phe) 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