{"id":408,"date":"2022-01-25T12:58:39","date_gmt":"2022-01-25T12:58:39","guid":{"rendered":"https:\/\/countrylanding-dev-001.azurewebsites.net\/au\/?page_id=408"},"modified":"2023-08-11T12:26:52","modified_gmt":"2023-08-11T12:26:52","slug":"fenilcetonuria-pku","status":"publish","type":"page","link":"https:\/\/www.biomarin.com\/pt-br\/fenilcetonuria-pku\/","title":{"rendered":"Fenilceton\u00faria (PKU)"},"content":{"rendered":"<div id=\"acf-block-642279df59927\" class=\"hero hero-large-first-para\">\n            <div class=\"hero-background-image hero-background-image-desktop\" style=\"background-image: url(https:\/\/www.biomarin.com\/pt-br\/wp-content\/uploads\/sites\/4\/2022\/03\/Phenylketonuria-PKU_-Disease-and-Conditions-BioMarin-edited-1.jpg?v=0.371);\"><\/div>\n\t    <div class=\"hero-background-image hero-background-image-mobile\" style=\"background-image: url(https:\/\/www.biomarin.com\/pt-br\/wp-content\/uploads\/sites\/4\/2023\/08\/mob-grad-H.jpg?v=0.371);\"><\/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    <span class=\"section-title\">\u00c1reas Terap\u00eauticas<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t    <h1>Fenilceton\u00faria (PKU)\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t    <p>O que \u00e9 PKU?<\/p>\n<p>A fenilceton\u00faria (PKU) \u00e9 um dist\u00farbio metab\u00f3lico raro e heredit\u00e1rio, causado pela defici\u00eancia da enzima fenilalanina hidroxilase (PAH).<\/p>\n\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-642279df5996d\" class=\"block block-sidebar-content block-zero-top\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"content\">\n\t\t\t\t<div class=\"main\">\n                    \n<div id=\"acf-block-642279df5999a\" class=\"block-wysiwyg\">\n            <h2>Sinais e Sintomas da Fenilceton\u00faria (PKU)<\/h2>\n<p>A PKU \u00e9 causada pela defici\u00eancia de PAH (fenilalanina hidroxilase). Esta enzima \u00e9 necess\u00e1ria para a quebra de fenilalanina (Phe), um amino\u00e1cido essencial encontrado em todos os alimentos que cont\u00eam prote\u00ednas. Quando esta enzima  \u00e9 deficiente ou comprometida, a fenilalanina se acumula no sangue e no c\u00e9rebro em n\u00edveis surpreendentemente altos.<\/p>\n<p>As manifesta\u00e7\u00f5es cl\u00ednicas causadas por n\u00edveis altos e prolongados de Phe incluem diversas complica\u00e7\u00f5es s\u00e9rias neurol\u00f3gicas e neuropsicol\u00f3gicas, incluindo:<\/p>\n<ul>\n<li>Transtornos de humor<\/li>\n<li>Tremores<\/li>\n<li>Problemas cognitivos<\/li>\n<li>Comprometimento das fun\u00e7\u00f5es executivas (relacionadas \u00e0 capacidade de aprendizagem, entre outras coisas)<\/li>\n<\/ul>\n    <\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"sub\">\n\t\t\t\t                                                                                                                                                                                                                                                                                                                                                                                                                                                            <p><a class=\"button button-external\" href=\"https:\/\/www.biomarin.com\/our-motivation\/diseases-and-conditions\/pku\/\" target=\"_blank\">Leia mais sobre PKU em biomarin.com<\/a><\/p>\n                                                                                                                                            \t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"Our-therapeutic-areas\" class=\"block boxed-content top-border block-tight-top block-tight-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                    <h2>Nossas \u00e1reas terap\u00eauticas\n<\/h2>\n                \t\t\t\t\n<div id=\"acf-block-64183cc48df96\" class=\"image-text-block bottom-border\">\n            <div class=\"image-block medium\">\n            <figure>\n                <div class=\"image image-rounded\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/www.biomarin.com\/pt-br\/wp-content\/uploads\/sites\/4\/2022\/01\/MPS-VI.jpg?v=0.371\" alt=\"Image of a happy MPS VI patient\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>Mucopolissacaridose Tipo VI (MPS VI)\n<\/h3>\n                            <p>A mucopolissacaridose VI faz parte de um grupo de doen\u00e7as nas quais mucopolissacar\u00eddeos (longas cadeias de mol\u00e9culas de a\u00e7\u00facar) se acumulam em tecidos do corpo, o que afeta m\u00faltiplos sistemas e reduz a expectativa e qualidade de vida.<\/p>\n<p>A mucopolissacaridose VI (MPS VI), tamb\u00e9m conhecida como S\u00edndrome de Maroteaux-Lamy, \u00e9 um dist\u00farbio ultrarraro, heredit\u00e1rio, de armazenamento lisoss\u00f4mico, causado pela defici\u00eancia da N-acetilgalactosamina-4-sulfatase (arilsulfatase B), uma enzima necess\u00e1ria para a quebra de alguns carboidratos complexos conhecidos como glicosaminoglicanos (GAGs).<\/p>\n                                            <p><a class=\"button button-ghost button-arrow\" href=\"https:\/\/www.biomarin.com\/pt-br\/mucopolissacaridose-vi\/\" target=\"_self\">Ver mais<\/a><\/p>\n                        <\/div>\n<\/div>\n\n<div id=\"acf-block-64183cc48dfb3\" class=\"image-text-block bottom-border\">\n            <div class=\"image-block medium\">\n            <figure>\n                <div class=\"image image-rounded\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/www.biomarin.com\/pt-br\/wp-content\/uploads\/sites\/4\/2022\/01\/MPS-VIA.jpg?v=0.371\" alt=\"Image of a happy MPS IVA patient\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>Mucopolissacaridose Tipo IVA (MPS IVA)\n<\/h3>\n                            <p>A mucopolissacaridose IVA faz parte de um grupo de doen\u00e7as nas quais mucopolissacar\u00eddeos (longas cadeias de mol\u00e9culas de a\u00e7\u00facar) se acumulam em tecidos do corpo, o que afeta m\u00faltiplos sistemas  e reduz a expectativa e qualidade de vida.<\/p>\n<p>A mucopolissacaridose tipo IVA (MPS IVA), tamb\u00e9m conhecida como S\u00edndrome de Morquio A, \u00e9 um dist\u00farbio ultrarraro, heredit\u00e1rio, de armazenamento lisoss\u00f4mico, causado pela defici\u00eancia da N-acetilgalactosamina-6-sulfatase (GALNS), uma enzima necess\u00e1ria para a quebra de alguns carboidratos complexos conhecidos como glicosaminoglicanos (GAGs).<\/p>\n                                            <p><a class=\"button button-ghost button-arrow\" href=\"https:\/\/www.biomarin.com\/pt-br\/mucopolissacaridose-iva\/\" target=\"_self\">Ver mais<\/a><\/p>\n                        <\/div>\n<\/div>\n\n<div id=\"acf-block-64211137de0e1\" class=\"image-text-block bottom-border\">\n            <div class=\"image-block medium\">\n            <figure>\n                <div class=\"image image-rounded\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/www.biomarin.com\/pt-br\/wp-content\/uploads\/sites\/4\/2022\/01\/CLN2.jpg?v=0.371\" alt=\"Image of a happy CLN2 patient\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>Lipofuscinose Ceroide Neuronal Tipo 2 (CLN2)\n<\/h3>\n                            <p>A doen\u00e7a de batten\/lipofuscinose ceroide neuronal tipo 2, faz parte de um grupo de doen\u00e7as neurodegenerativas que ocorrem na inf\u00e2ncia, raras e de origem gen\u00e9tica, que causa sintomas progressivamente debilitantes, al\u00e9m da perda irrevers\u00edvel de c\u00e9lulas neuronais.<\/p>\n<p>Se apresenta como uma degenera\u00e7\u00e3o inesperada da fun\u00e7\u00e3o cerebral, frequentemente associada a doen\u00e7as encontradas em adultos como, por exemplo, o mal de Alzheimer, comumente diagnosticada incorretamente quando afeta crian\u00e7as.<\/p>\n<p>Muitas formas de doen\u00e7as neurodegenerativas na inf\u00e2ncia, que se apresentam inicialmente como convuls\u00f5es recorrentes, evoluem para danos cerebrais irrepar\u00e1veis, dem\u00eancia, epilepsia, cegueira e perda das fun\u00e7\u00f5es motoras como, por exemplo, a capacidade de degluti\u00e7\u00e3o.<\/p>\n                                            <p><a class=\"button button-ghost button-arrow\" href=\"https:\/\/www.biomarin.com\/pt-br\/cln2\/\" target=\"_self\">Ver mais<\/a><\/p>\n                        <\/div>\n<\/div>\n\n<div id=\"acf-block-64211137de0e1\" class=\"image-text-block\">\n            <div class=\"image-block medium\">\n            <figure>\n                <div class=\"image image-rounded\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/www.biomarin.com\/pt-br\/wp-content\/uploads\/sites\/4\/2023\/03\/kid-doing-homework.png?v=0.371\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>Acondroplasia (ACH)\n<\/h3>\n                            <p>A acondroplasia \u00e9 o tipo mais comum de nanismo, uma displasia esquel\u00e9tica que afeta os ossos e a cartilagem. Embora os efeitos mais vis\u00edveis estejam nos bra\u00e7os, nas pernas e na face, praticamente todos os ossos do corpo s\u00e3o afetados.<\/p>\n<p>Afeta 1 em cada 25.000 crian\u00e7as nascidas vivas e estima-se que h\u00e1 aproximadamente 250.000 pessoas com esta condi\u00e7\u00e3o no mundo. A maioria das crian\u00e7as com acondroplasia (80%) nasce de pais de estatura mediana, como resultado de uma altera\u00e7\u00e3o aleat\u00f3ria (uma muta\u00e7\u00e3o) no gene <em>FGFR3<\/em>, que faz com que ele n\u00e3o funcione de maneira apropriada.<\/p>\n<p>Os indiv\u00edduos que possuem acondroplasia apresentam uma redu\u00e7\u00e3o na velocidade de crescimento \u00f3sseo. Al\u00e9m disso, potenciais complica\u00e7\u00f5es graves, progressivas e persistentes ao longo da vida ocorrem em sistemas como o otorrinolaringol\u00f3gico, neurol\u00f3gico, card\u00edaco e musculoesquel\u00e9tico.<\/p>\n                                            <p><a class=\"button button-ghost button-arrow\" href=\"https:\/\/www.biomarin.com\/pt-br\/acondroplasia\/\" target=\"_self\">Ver mais<\/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-6424df1fbfeaa\" class=\"block references block-tight-top block-tight-bottom\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t    \t\t\t    <h4>Refer\u00eancias da p\u00e1gina:\n<\/h4>\n\t\t\t\t\t\t                <ol>\n                                                                                                                        <li><span>https:\/\/www.gov.br\/saude\/pt-br\/composicao\/saes\/sangue\/programa-nacional-da-triagem-neonatal\/fenilcetonuria-pku  \n<\/span><\/li>\n                                                                                                                                                <li><span>Health, N.I.o. Phenylketonuria: screening and management. 2000 [cited June 2011; Available from: http:\/\/consensus.nih.gov\/2000\/2000Phenylketonuria113html.htm\n<\/span><\/li>\n                                                                                                                                                <li><span>Camp, K.M., et al., Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab, 2014. 112(2): p. 87-122.\n<\/span><\/li>\n                                                                                                                                                <li><span>Christ, S.E., et al., Executive function in early-treated phenylketonuria: profile and underlying mechanisms. Mol Genet Metab, 2010. 99 Suppl 1: p. S22- 32.\n<\/span><\/li>\n                                                                                                                                                <li><span>Dobrowolski, S.F., et al., Altered DNA methylation in PAH deficient phenylketonuria. Mol Genet Metab, 2015. 115(2-3): p. 72-7.\n<\/span><\/li>\n                                                                                                                                                <li><span>Hoeksma, M., et al., Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis. Mol Genet Metab, 2009. 96(4): p. 177-82.\n<\/span><\/li>\n                                                                                                                                                <li><span>Bilder DA, Burton BK, Coon H, Leviton L, Ashworth J, Lundy BD, et al. Psychiatric symptoms in adults with phenylketonuria. Molecular Genetics &amp; Metabolism 2013;108(3):155-60.\n<\/span><\/li>\n                                                            <\/ol>\n\t\t\t\t\t<\/div>\n\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>PKU \u00e9 um dist\u00farbio gen\u00e9tico metab\u00f3lico no qual a fenilalanina (Phe) n\u00e3o consegue ser metabolizada.<\/p>\n","protected":false},"author":9,"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-408","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>Sinais e Sintomas de Fenilceton\u00faria (PKU) | BioMarin Brasil<\/title>\n<meta name=\"description\" content=\"PKU \u00e9 um dist\u00farbio gen\u00e9tico metab\u00f3lico no qual a fenilalanina (Phe) n\u00e3o 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