{"id":210,"date":"2023-01-11T05:07:15","date_gmt":"2023-01-11T05:07:15","guid":{"rendered":"https:\/\/pkudsehcp-dev-001.azurewebsites.net\/es-us\/?page_id=210"},"modified":"2024-09-11T14:36:03","modified_gmt":"2024-09-11T14:36:03","slug":"genetica-y-fisiopatologia","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/es-la\/pku\/genetica-y-fisiopatologia\/","title":{"rendered":"Gen\u00e9tica y Fisiopatolog\u00eda"},"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\/es-la\/pku\/wp-content\/uploads\/sites\/6\/2023\/12\/ES-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\/es-la\/pku\/wp-content\/uploads\/sites\/6\/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>Fenilcetonuria: un trastorno raro, autos\u00f3mico recesivo<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 de la fenilcetonuria (PKU)<\/h2>\n<ul>\n<li>La fenilcetonuria (PKU) est\u00e1 causada por variantes en el gen PAH, que codifica la enzima fenilalanina hidroxilasa (PAH).<sup>3,4<\/sup><\/li>\n<li>La PAH se expresa principalmente en el h\u00edgado<sup>3<\/sup><\/li>\n<li>Los defectos de PAH pueden variar de defectos leves de plegamiento de la prote\u00edna hasta ausencia o deficiencia de expresi\u00f3n de PAH<sup>2<\/sup><\/li>\n<li>La deficiencia de PAH presenta un espectro de gravedad. Los m\u00e1s graves son los individuos con deficiencia enzim\u00e1tica completa, o PKU cl\u00e1sica (niveles de fenilalanina [Phe] en sangre &gt;1200 \u00b5mol\/L).<sup>2<\/sup><\/li>\n<li>Como la PAH cataliza la hidroxilaci\u00f3n de Phe en tirosina (Tyr), la deficiencia de PAH perjudica la conversi\u00f3n de Phe en Tyr. Esto provoca que el amino\u00e1cido Phe se acumule en sangre y cerebro, derivando en una serie de deficiencias intelectuales, as\u00ed como consecuencias neurol\u00f3gicas, neuropsiqui\u00e1tricas y psicosociales.<sup>3<\/sup><\/li>\n<li>La PKU se hereda como una condici\u00f3n autos\u00f3mica recesiva. Quienes solo tienen una mutaci\u00f3n de PAH (por ejemplo, padres de un ni\u00f1o con fenilcetonuria) son portadores y no presentan ninguna de las caracter\u00edsticas bioqu\u00edmicas o cl\u00ednicas de la 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\/es-la\/pku\/wp-content\/uploads\/sites\/6\/2024\/07\/chemical_structure_ES_new.svg\" alt=\"\" \/>                                                                                    <\/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>Los niveles altos y\/o variables de Phe pueden tener efectos neurot\u00f3xicos en el cerebro<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\/es-la\/pku\/wp-content\/uploads\/sites\/6\/2024\/07\/blood_brain_barrier_infographic_LAE.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\/es-la\/pku\/wp-content\/uploads\/sites\/6\/2024\/07\/blood_brain_barrier_infographic_mobile_ES_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>La elevaci\u00f3n de Phe en el cerebro afecta la morfolog\u00eda normal de materia blanca y perjudica la s\u00edntesis de neurotransmisores<sup>10<\/sup><\/h2>\n    <\/div>\n\n<figure id=\"acf-block-63f5bff5e6dc6\">\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\/es-la\/pku\/wp-content\/uploads\/sites\/6\/2023\/10\/brain_infographic_ES.svg\" alt=\"Cambios elevados de Phe en la imagen de la materia blanca del cerebro\" \/>\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\/es-la\/pku\/wp-content\/uploads\/sites\/6\/2023\/10\/brain_infographic_ES.svg\" alt=\"Cambios elevados de Phe en la imagen de la materia blanca del cerebro\" \/>\t\t\t<\/div>\n            <\/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>Conozca m\u00e1s 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 card-centered\" data-muted-autoplay=\"false\">\n    \t    \n\n                    <img decoding=\"async\" class=\"card-image\" src=\"https:\/\/hcp.biomarin.com\/es-la\/pku\/wp-content\/uploads\/sites\/6\/2023\/01\/adult_pku_icon_new.svg\" alt=\"Icono de desaf\u00edos para adultos en PKU\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>Conozca m\u00e1s sobre los desaf\u00edos de PKU en 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\/es-la\/pku\/historias-de-pacientes\/\" target=\"_self\">Escuche historias de pacientes<\/a><\/p>\n                                                                                    <\/div>\n<\/div>\n\n<div id=\"acf-block-63f5bff5e6e3b\" 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\/es-la\/pku\/wp-content\/uploads\/sites\/6\/2023\/02\/phe.svg\" alt=\"Icono de rango de Phe por encima del objetivo\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>67% de los adultos con PKU est\u00e1n por encima de los rangos de Phe recomendados por las gu\u00edas<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\/es-la\/pku\/necesidad-no-atendida\/\" target=\"_self\">Sepa por qu\u00e9<\/a><\/p>\n                                                                                    <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"Mant\u00e9ngase-actualizado\" class=\"block hcp-sign-up-form\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                            <h2>Mant\u00e9ngase actualizado con la informaci\u00f3n m\u00e1s recientes sobre PKU\n<\/h2>\n                        <div class=\"block form-box\">\n                                    <p>Reg\u00edstrese abajo para entrar en contacto con un representante de BioMarin, conozca m\u00e1s sobre los pr\u00f3ximos eventos y noticias sobre PKU o solicitar una conversaci\u00f3n entre pares.<\/p>\n<p><strong>* Campos obligatorios<\/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\">Con\u00e9ctese con un representante local de BioMarin<\/label>\n                    <\/div>\n\n                    <div class=\"form-item\">\n                        <label for=\"first-name\">Primer nombre<span class=\"required\">*<\/span><\/label>\n                        <input class=\"text\" id=\"first-name\" type=\"text\" required\n                        data-pristine-required-message=\"Ingrese su primer nombre.\">\n                    <\/div>\n\n                    <div class=\"form-item\">\n                        <label for=\"last-name\">Apellido<span class=\"required\">*<\/span><\/label>\n                        <input class=\"text\" id=\"last-name\" type=\"text\" required\n                        data-pristine-required-message=\"Ingrese su apellido.\">\n                    <\/div>\n\n                    <div class=\"form-item\">\n                        <label for=\"medical-speciality\">Especialidad<span class=\"required\">*<\/span><\/label>\n                        <select class=\"text\" id=\"medical-speciality\" required\n                        data-pristine-required-message=\"Seleccione su especialidad m\u00e9dica.\">\n                            <option value=\"\">Por favor, seleccione su especialidad m\u00e9dica<\/option>\n                            <option value=\"Anesthesiology\">Anestesiolog\u00eda<\/option>\n                            <option value=\"Audiology\">Audiolog\u00eda<\/option>\n                            <option value=\"Behavioral Neurology &#038; Neuropsychiatry\">Neurolog\u00eda del Comportamiento y Neuropsiquiatr\u00eda<\/option>\n                            <option value=\"Biology\">Biolog\u00eda<\/option>\n                            <option value=\"Biomedical Engineering\">Ingenier\u00eda Biom\u00e9dica<\/option>\n                            <option value=\"Cardiology\">Cardiolog\u00eda<\/option>\n                            <option value=\"Clinical Biochemical Genetics\">Gen\u00e9tica Bioqu\u00edmica Cl\u00ednica<\/option>\n                            <option value=\"Dentistry and Odontology\">Odontolog\u00eda<\/option>\n                            <option value=\"Dermatology\">Dermatolog\u00eda<\/option>\n                            <option value=\"Diagnostic Radiology\">Radiolog\u00eda diagn\u00f3stica<\/option>\n                            <option value=\"Electoencephalography\">Electroencefalograf\u00eda<\/option>\n                            <option value=\"Endocrinology, Diabetes &#038; Metabolism\">Endocrinolog\u00eda, Diabeter y Metabolismo<\/option>\n                            <option value=\"ENT\/ Otorhinolaryngologist\">Otorrinolaring\u00f3logo<\/option>\n                            <option value=\"Epileptology\">Epileptolog\u00eda<\/option>\n                            <option value=\"Gastroenterology\">Gastroenterolog\u00eda<\/option>\n                            <option value=\"General Practice\/Family\">Cl\u00ednica general\/familiar<\/option>\n                            <option value=\"Genetics\">Gen\u00e9tica<\/option>\n                            <option value=\"Hearing and Speech\">Terapia del lenguaje<\/option>\n                            <option value=\"Hematology\">Hematolog\u00eda<\/option>\n                            <option value=\"Hematology&#038;Oncology\">Hematolog\u00eda y Oncolog\u00eda<\/option>\n                            <option value=\"Hepatology\">Hepatolog\u00eda<\/option>\n                            <option value=\"Infectious Diseases\">Enfermedades infecciosas<\/option>\n                            <option value=\"Intensive Care\">Tratamiento intensivo<\/option>\n                            <option value=\"Internal Medicine\">Medicina Interna<\/option>\n                            <option value=\"Kinesiology\">Kinesiolog\u00eda<\/option>\n                            <option value=\"Laboratory Management\">Gesti\u00f3n de laboratorio<\/option>\n                            <option value=\"Medical Student\">Estudiante de medicina<\/option>\n                            <option value=\"Neonatology\">Neonatolog\u00eda<\/option>\n                            <option value=\"Nephrology\">Nefrolog\u00eda<\/option>\n                            <option value=\"Neurology\">Neurolog\u00eda<\/option>\n                            <option value=\"Neuromuscular Medicine\">Medicina neuromuscular<\/option>\n                            <option value=\"Nutrition, Metabolic\">Nutrici\u00f3n metab\u00f3lica<\/option>\n                            <option value=\"Nutritionist\">Nutricionista<\/option>\n                            <option value=\"Obstetrics\">Obstetricia<\/option>\n                            <option value=\"Occupation Health\">Salud ocupacional<\/option>\n                            <option value=\"Oncology\">Oncolog\u00eda<\/option>\n                            <option value=\"Ophthalmology\">Oftalmolog\u00eda<\/option>\n                            <option value=\"Orthopedics\">Ortoped\u00eda<\/option>\n                            <option value=\"Paliative\/Hospice\">Paliativo<\/option>\n                            <option value=\"Pediatric Allergy\/Immunology\">Alergia\/Inmunolog\u00eda Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Anesthesiology\">Anestesiolog\u00eda Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Cardiology\">Cardiolog\u00eda Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Dentistry\">Odont\u00f3logo pedi\u00e1trico<\/option>\n                            <option value=\"Pediatric Endocrinology\">Endocrinolog\u00eda Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Endocrinology, Diabetes &#038; Metabolism\">Endocrinolog\u00eda Pedi\u00e1trica, Diabetes y Metabolismo<\/option>\n                            <option value=\"Pediatric ENT\">Otorrinolaringolog\u00eda pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Gastroenterology\">Gastroenterolog\u00eda Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Gastroenterology &#038; Metabolism\">Gastroenterolog\u00eda y metabolismo pedi\u00e1tricos<\/option>\n                            <option value=\"Pediatric Genetics\">Gen\u00e9tica pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Hematology\">Hematolog\u00eda pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Hematology-Oncology\">Hematolog\u00eda-Oncolog\u00eda Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Metabolism\">Metabolismo pedi\u00e1trico<\/option>\n                            <option value=\"Pediatric Neurology\">Neurolog\u00eda Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Neurosurgery\">Neurocirug\u00eda Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Oncology\">Oncolog\u00eda Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Ophthalmology and Strabismus Specialist\">Especialista en oftalmolog\u00eda pedi\u00e1trica y estrabismo<\/option>\n                            <option value=\"Pediatric Orthopedics\">Ortopedia pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Pneumology\">Neumolog\u00eda Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Radiology\">Radiolog\u00eda Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatric Rheumatology\">Reumatolog\u00eda Pedi\u00e1trica<\/option>\n                            <option value=\"Pediatrics\">Pediatr\u00eda<\/option>\n                            <option value=\"Phonoaudiology\">Terapia del lenguaje<\/option>\n                            <option value=\"Physiatry\">Fisiatr\u00eda<\/option>\n                            <option value=\"Physician Assistant\">M\u00e9dico asistente<\/option>\n                            <option value=\"Physiotherapy\">Fisioterapia<\/option>\n                            <option value=\"Primary Care\">Atenci\u00f3n primaria<\/option>\n                            <option value=\"Psychology\/Psychiatry\">Psicolog\u00eda\/Psiquiatr\u00eda<\/option>\n                            <option value=\"Pulmonology\">Neumolog\u00eda<\/option>\n                            <option value=\"Radiology (MRI imaging)\">Radiolog\u00eda<\/option>\n                            <option value=\"Research\">Investigador<\/option>\n                            <option value=\"Rheumatology\">Reumatolog\u00eda<\/option>\n                            <option value=\"Surgery\">Cirug\u00eda<\/option>\n                            <option value=\"Traumatology\">Traumatolog\u00eda<\/option>\n                            <option value=\"Other\">Otro<\/option>\n                        <\/select>\n                    <\/div>\n\n                    <div class=\"form-item\">\n                        <label for=\"email\">Direcci\u00f3n de e-mail<span class=\"required\">*<\/span><\/label>\n                        <input class=\"text\" id=\"email\" type=\"email\" required\n                        data-pristine-required-message=\"Ingrese su direcci\u00f3n de e-mail.\"\n                        data-pristine-email-message=\"Este campo requiere una direcci\u00f3n de e-mail v\u00e1lida.\">\n                    <\/div>\n\n                    <div class=\"form-item\">\n                        <label for=\"country\">Pa\u00eds<span class=\"required\">*<\/span><\/label>\n                        <select class=\"text\" id=\"country\" required\n                        data-pristine-required-message=\"Selecciona tu pais.\">\n                            <option value=\"\">Por favor, seleccione su pa\u00eds<\/option>\n                            <option value=\"ARGENTINA\">Argentina<\/option>\n                            <option value=\"BOLIVIA\">Bolivia<\/option>\n                            <option value=\"CHILE\">Chile<\/option>\n                            <option value=\"COLOMBIA\">Colombia<\/option>\n                            <option value=\"COSTA RICA\">Costa Rica<\/option>\n                            <option value=\"ECUADOR\">Ecuador<\/option>\n                            <option value=\"EL SALVADOR\">El Salvador<\/option>\n                            <option value=\"GUATEMALA\">Guatemala<\/option>\n                            <option value=\"MEXICO\">M\u00e9xico<\/option>\n                            <option value=\"NICARAGUA\">Nicar\u00e1gua<\/option>\n                            <option value=\"PANAMA\">Panam\u00e1<\/option>\n                            <option value=\"PARAGUAY\">Paraguay<\/option>\n                            <option value=\"PERU\">Peru<\/option>\n                            <option value=\"URUGUAI\">Uruguai<\/option>\n                            <option value=\"OTHER\">Otro<\/option>\n                        <\/select>\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, acepte los t\u00e9rminos de uso.\">\n                        <label for=\"accept-ts-cs\">Al enviar su informaci\u00f3n y confirmar su registro, usted declara, para los debidos efectos legales, que la informaci\u00f3n proporcionada es verdadera, siendo responsable de cualquier inexactitud, falsedad, error y cualesquiera consecuencias que de ello se deriven y aceptando la <a href=\"https:\/\/www.biomarin.com\/data-privacy-center\/\" target=\"_blank\">Pol\u00edtica de Privacidad de BioMarin<\/a> y los <a href=\"https:\/\/medinfoterms.com\/\" target=\"_blank\">T\u00e9rminos de Uso<\/a> y acepta el procesamiento de sus Datos personales seg\u00fan lo establecido en el mismo, incluido que sus Datos personales se almacenar\u00e1n en bases de datos de BioMarin ubicadas, entre otras, en Am\u00e9rica Latina, Europa y\/o Estados Unidos. De acuerdo con la Pol\u00edtica de Privacidad de BioMarin, sus Datos Personales se mantendr\u00e1n seguros, de acuerdo con las leyes y regulaciones aplicables, y podr\u00e1n usarse para (i) invitarlo a participar en programas que BioMarin desarrolla por s\u00ed mismo y\/o junto con sus socios, (ii) realizar actividades relacionadas con el objeto social de BioMarin, (iii) realizar estudios epidemiol\u00f3gicos e investigaciones de resultados, (iv) comunicar informaci\u00f3n sobre enfermedades del portafolio de BioMarin, (v) comunicar informaci\u00f3n sobre los productos de BioMarin a profesionales de la salud a trav\u00e9s de nuestros representantes de ventas o equipo m\u00e9dico, nuestros sitios web, correo electr\u00f3nico, centros de llamadas, correo postal y otros canales, incluidas comunicaciones y otras promociones de marketing, seg\u00fan corresponda, (vi) realizar simposios, conferencias y otros programas educativos y cient\u00edficos, de BioMarin mismo o de terceros; y (vii) realizar estudios de mercado. Si tiene alguna pregunta sobre el procesamiento de sus datos personales o desea ejercer sus derechos, comun\u00edquese con BioMarin a trav\u00e9s del correo electr\u00f3nico <a href=\"mailto:LATAMDataPrivacy@ bmrn.com\">LATAMDataPrivacy@bmrn.com<\/a>.<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>\u00a1Muchas gracias!<\/h3>\n<p>En breve nos pondremos en contacto con informaci\u00f3n adicional.<\/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>Referencias:\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 v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gen\u00e9tica y fisiopatolog\u00eda de la fenilcetonuria (PKU)<\/title>\n<meta name=\"description\" content=\"Fenilcetonuria (PKU): es un error innato del metabolismo de la fenilalanina (Phe), de herencia autos\u00f3mica recesiva causado por variantes en la 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