{"id":1421,"date":"2025-03-14T11:58:21","date_gmt":"2025-03-14T11:58:21","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/?page_id=1421"},"modified":"2025-08-01T14:26:15","modified_gmt":"2025-08-01T14:26:15","slug":"enzimas-biomarcador-metabolico","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/pt\/diagnostics\/enzymes-metabolic-biomarker\/","title":{"rendered":"Enzimas e Biomarcadores Metab\u00f3licos"},"content":{"rendered":"<section class=\"bloque-banner-titulo-page  estilo-grey\" id=\"\">\r\n    \r\n    <div class=\"image-wrapper\">\r\n\r\n      <!-- include mp4 video on a loop -->\r\n              <img decoding=\"async\" class=\"\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_centogene-diagnostics-our-tests_biomarker-multiomics-header_6599a09aae.webp\" alt=\"csm_centogene-diagnostics-our-tests_biomarker-multiomics-header_6599a09aae\" \/>\r\n          <\/div>\r\n    <div class=\"container content-wrapper\">\r\n      <div class=\"row justify-content-start align-items-center\">\r\n\r\n\r\n        <div class=\"col-12 col-lg-6 animation fadeTop align-self-center\">\r\n                  <h1>Enzimas e Biomarcadores Metab\u00f3licos<\/h1>\r\n          <h2 class=\"bl-texto\">Abrindo caminho para terapias personalizadas. Combinando informa\u00e7\u00f5es de gen\u00f4mica, prote\u00f4mica e metabol\u00f4mica para impulsionar o diagn\u00f3stico precoce, a previs\u00e3o e o monitoramento terap\u00eautico.<\/h2>           \r\n          <a class=\"btn btn-primary mb-2\" href=\"#more\">Saber mais<\/a>\r\n                            <\/div>\r\n\r\n      <\/div>\r\n    <\/div>\r\n\r\n<\/section>\r\n<div class=\"breadcrumbs\">\r\n    <div class=\"container\">\r\n      <div class=\"row\">\r\n        <div class=\"col-12\">\r\n          <ul id=\"breadcrumbs\" class=\"breadcrumbs\"><li><a href=\"https:\/\/www.centogene.com\/pt\/\">Home<\/a><\/li><\/ul>        <\/div>\r\n      <\/div>\r\n    <\/div>\r\n<\/div>\r\n\r\n\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h2 class=\"wp-block-heading\">Acelerar diagn\u00f3sticos e orientar op\u00e7\u00f5es de tratamento<\/h2>\n\n\n\n<p class=\"has-medium-font-size wp-block-paragraph\">Um biomarcador ideal desempenha um papel essencial no diagn\u00f3stico precoce, na previs\u00e3o e no monitoramento terap\u00eautico de uma doen\u00e7a espec\u00edfica, refletindo o impacto da doen\u00e7a nos pacientes.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">A utiliza\u00e7\u00e3o de biomarcadores, seja como ferramenta de diagn\u00f3stico ou no monitoramento regular da progress\u00e3o da doen\u00e7a, pode ser de grande valor cl\u00ednico para os pacientes. Os biomarcadores podem ser usados como medida da efic\u00e1cia da terapia e at\u00e9 mesmo como guia para a dosagem do tratamento.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">A CENTOGENE oferece diagn\u00f3stico m\u00e9dico r\u00e1pido de doen\u00e7as heredit\u00e1rias raras por meio do portf\u00f3lio mais abrangente de testes gen\u00e9ticos, combinado com testes de biomarcadores e enzim\u00e1ticos, al\u00e9m da melhor interpreta\u00e7\u00e3o da categoria.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja tableicons\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h5 class=\"wp-block-heading mb-3\">Caracter\u00edsticas dos biomarcadores da CENTOGENE<\/h5>\n\n\n\n<div class=\"wp-block-group is-nowrap is-layout-flex wp-container-core-group-is-layout-8f761849 wp-block-group-is-layout-flex\">\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/centogene_pharma_operationalising_clinical_trials_icon_pharma_single_pill.svg\" alt=\"\" class=\"wp-image-1089\" style=\"object-fit:cover\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Monitoramento da resposta ao tratamento<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-group is-nowrap is-layout-flex wp-container-core-group-is-layout-8f761849 wp-block-group-is-layout-flex\">\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-centocard-icon-complete.svg\" alt=\"\" class=\"wp-image-1989\" style=\"object-fit:cover;width:70px;height:70px\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Log\u00edstica e an\u00e1lise simplificadas em manchas de sangue seco (DBS) com tecnologia de cart\u00e3o de filtro com marca\u00e7\u00e3o CE (CentoCard).<sup>\u00ae<\/sup>)<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-group is-nowrap is-layout-flex wp-container-core-group-is-layout-8f761849 wp-block-group-is-layout-flex\">\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-biomarker-testing-icon-biomarker.svg\" alt=\"\" class=\"wp-image-3389\" style=\"object-fit:cover;width:70px;height:70px\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Alta sensibilidade e especificidade<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-group is-nowrap is-layout-flex wp-container-core-group-is-layout-8f761849 wp-block-group-is-layout-flex\">\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-chromosomal-microarray-testing-icon-calendar-TAT.svg\" alt=\"\" class=\"wp-image-1572\" style=\"object-fit:cover;width:70px;height:70px\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Prazo de entrega curto<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-group is-nowrap is-layout-flex wp-container-core-group-is-layout-8f761849 wp-block-group-is-layout-flex\">\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/Icon_Pharma_Pill_Bottle.svg\" alt=\"\" class=\"wp-image-3388\" style=\"object-fit:cover;width:70px;height:70px\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Orienta\u00e7\u00e3o sobre regimes de tratamento individualizados para melhores resultados.<\/p>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"more\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:66.66%\">\n<h2 class=\"wp-block-heading\">Utiliza\u00e7\u00e3o de testes bioqu\u00edmicos<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">A atividade enzim\u00e1tica e os ensaios de biomarcadores podem ser usados para o diagn\u00f3stico de doen\u00e7as e a valida\u00e7\u00e3o do desenvolvimento de novos medicamentos. Enzimas e biomarcadores bioqu\u00edmicos frequentemente desempenham fun\u00e7\u00f5es essenciais em processos fisiol\u00f3gicos. Portanto, s\u00e3o ferramentas poderosas para revelar sinais precoces de doen\u00e7as ou para otimizar a progress\u00e3o da mesma.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja tableicons\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h4 class=\"wp-block-heading\">Uso geral de testes bioqu\u00edmicos<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Orientar regimes terap\u00eauticos<\/li>\n\n\n\n<li>Testes em coortes de risco<\/li>\n<\/ul>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n<\/div>\n\n\n    <section class=\"bloque-personalizado bloque-cajas-imgs estilo-cajasiconos\" >\n        <div class=\"\"> \n                        <div class=\"row justify-content-between\">\n\n                                        \n                <div class=\"swiper-slide col-12 col-md-3 delay-1 caja\">\n                    <div class=\"caja-inner\" >\n                                                <div class=\"bl-imagen animationNo scalexTop delay-1\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-biomarker-testing-icon-biomarker.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">Ensaios de Biomarcadores e ENZIMAS<\/h3>\n                            <ul class=\"t3m-List t3m-List--unordered\">\n<li>Monitoramento de acompanhamento<\/li>\n<li>Mede a progress\u00e3o da doen\u00e7a e a resposta ao tratamento.<\/li>\n<li>diagn\u00f3stico diferencial<\/li>\n<\/ul>\n      \n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                            \n                <div class=\"swiper-slide col-12 col-md-3 delay-1 delay-2 caja\">\n                    <div class=\"caja-inner\" >\n                                                <div class=\"bl-imagen animationNo scalexTop delay-2\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-biomarker-testing-icon-computer-profile.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">Pain\u00e9is de Enzimas<\/h3>\n                            <p>Diagn\u00f3stico inicial de doen\u00e7as metab\u00f3licas complexas e multissist\u00eamicas<\/p>\n      \n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                            \n                <div class=\"swiper-slide col-12 col-md-3 delay-1 delay-2 delay-3 caja\">\n                    <div class=\"caja-inner\" >\n                                                <div class=\"bl-imagen animationNo scalexTop delay-3\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-biomarker-testing-icon-dna-single-genes-2.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">An\u00e1lise de biomarcadores\/enzimas + gene \u00fanico<\/h3>\n                            <ul class=\"t3m-List t3m-List--unordered\">\n<li>Suspeita de transtorno espec\u00edfico<\/li>\n<li>Sintomas claramente defin\u00edveis<\/li>\n<li>Para uma tomada de decis\u00e3o abrangente sobre o tratamento.<\/li>\n<\/ul>\n      \n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                            \n                <div class=\"swiper-slide col-12 col-md-3 delay-1 delay-2 delay-3 delay-4 caja\">\n                    <div class=\"caja-inner\" >\n                                                <div class=\"bl-imagen animationNo scalexTop delay-4\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-biomarker-testing-icon-dna-panels.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">Painel Gen\u00e9tico + Biomarcador\/Enzima<\/h3>\n                            <ul class=\"t3m-List t3m-List--unordered\">\n<li>Suspeita de dist\u00farbio metab\u00f3lico<\/li>\n<li>Sintomas complexos e sobrepostos com amplo diagn\u00f3stico diferencial<\/li>\n<li>Resultados anormais no teste de triagem neonatal<\/li>\n<li>Admiss\u00e3o em uma unidade de terapia intensiva neonatal<\/li>\n<li>Sintomas relacionados a condi\u00e7\u00f5es neurol\u00f3gicas de etiologia desconhecida<\/li>\n<li>Sintomas sobrepostos com idade de in\u00edcio e gravidade vari\u00e1veis.<\/li>\n<\/ul>\n      \n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                                     \n             \n            \n        <\/div>\n    <\/div>  \n<\/section>\n\n\n\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:66.66%\">\n<h2 class=\"wp-block-heading\">Caracter\u00edsticas dos biomarcadores da CENTOGENE<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>F\u00e1cil de ser analisado usando a tecnologia DBS (amostras de sangue seco).<\/li>\n\n\n\n<li>Associado \u00e0 manifesta\u00e7\u00e3o cl\u00ednica<\/li>\n\n\n\n<li>Quantifique de forma f\u00e1cil e confi\u00e1vel em amostras cl\u00ednicas.<\/li>\n\n\n\n<li>Reflita de forma realista o peso da doen\u00e7a.<\/li>\n\n\n\n<li>Elucidar a patog\u00eanese molecular da doen\u00e7a.<\/li>\n\n\n\n<li>Refletir os resultados das medidas terap\u00eauticas<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">Estrat\u00e9gias de teste \u2013 R\u00e1pidas e precisas<\/h2>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">Em doen\u00e7as e vias de doen\u00e7as complexas, um teste gen\u00e9tico isolado geralmente n\u00e3o consegue fornecer as informa\u00e7\u00f5es necess\u00e1rias para um diagn\u00f3stico definitivo. Portanto, <strong>a CENTOGENE foi pioneira na combina\u00e7\u00e3o de diferentes testes<\/strong> , como padr\u00f5es de biomarcadores e multi-biomarcadores, com recomenda\u00e7\u00f5es claras para estrat\u00e9gias de teste\u00b9 <sup>.<\/sup> Essas estrat\u00e9gias de teste oferecem a voc\u00ea e seus pacientes uma solu\u00e7\u00e3o mais r\u00e1pida, confi\u00e1vel e completa, fornecendo respostas vitais e oportunas quando mais importam.<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>Testando<\/th><th>Estrat\u00e9gia<\/th><th>Portf\u00f3lio CENTOGENE<\/th><\/tr><\/thead><tbody><tr><th><strong>Biomarcador<\/strong><\/th><td>Testes de biomarcadores para pr\u00e9 ou p\u00f3s-diagn\u00f3stico<\/td><td>Para as seguintes doen\u00e7as: Doen\u00e7a de Gaucher, Doen\u00e7a de Fabry, Doen\u00e7a de Niemann-Pick tipo A\/B e tipo C, Defici\u00eancia de AADC.<\/td><\/tr><tr><th><strong>Enzima<\/strong><\/th><td>Testes de atividade enzim\u00e1tica para pr\u00e9 ou p\u00f3s-diagn\u00f3stico<\/td><td>para as seguintes doen\u00e7as: Doen\u00e7a de Gaucher, Doen\u00e7a de Fabry, Doen\u00e7a de Pompe, S\u00edndrome de Hurler (MPS I), S\u00edndrome de Hunter (MPS II), S\u00edndrome de Maroteaux-Lamy (MPS VI), S\u00edndrome de Morquio B (MPS IV B), Doen\u00e7a de Wolman, S\u00edndrome de Sanfilippo B (MPS III B), Beta-manosidose, Fucosidose, S\u00edndrome de Sly (MPS VII), Doen\u00e7a de Tay-Sachs, Doen\u00e7a de Sandhoff, Doen\u00e7a de Schindler\/Kanzaki, Doen\u00e7a de Santavuori-Haltia, Doen\u00e7a de Jansky-Bielschowsky<\/td><\/tr><tr><th colspan=\"3\">Solu\u00e7\u00f5es Multi\u00f4micas<\/th><\/tr><tr><th><strong>Painel gen\u00e9tico + biomarcador\/enzima<\/strong><\/th><td>Testamos primeiro uma ampla gama de genes, seguida de testes bioqu\u00edmicos.<sup>1<\/sup><\/td><td class=\"translation-block\">CentoMetabolic <sup>\u00ae<\/sup> MOx (aproximadamente 200 dist\u00farbios metab\u00f3licos)<br> Tamb\u00e9m dispon\u00edvel em combina\u00e7\u00e3o com WES ou WGS e RNA-seq adicional.<br> Para obter mais informa\u00e7\u00f5es, visite: <a href=\"http:\/\/multiomic\" target=\"_self\">Multiomic Solutions<\/a> .<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">Especializa\u00e7\u00e3o \u00fanica da CENTOGENE em dist\u00farbios metab\u00f3licos<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Transformando o tratamento de dist\u00farbios metab\u00f3licos<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">As doen\u00e7as metab\u00f3licas s\u00e3o um grupo de doen\u00e7as raras e heredit\u00e1rias caracterizadas pelo ac\u00famulo anormal de diferentes metab\u00f3litos nas c\u00e9lulas, levando ao comprometimento do funcionamento das organelas celulares afetadas.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Um outro subgrupo, as doen\u00e7as de armazenamento lisoss\u00f4mico (DALs), afeta coletivamente 1 em cada 5.000 nascidos vivos, sendo as doen\u00e7as de Fabry e Gaucher as mais prevalentes.<sup>2,3,4<\/sup>&nbsp;Estima-se que a cada 20 minutos nas\u00e7a uma crian\u00e7a com uma doen\u00e7a de dep\u00f3sito lisoss\u00f4mico heredit\u00e1ria.<\/p>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">A CENTOGENE desenvolveu m\u00faltiplos biomarcadores espec\u00edficos para certas doen\u00e7as de dep\u00f3sito lisoss\u00f4mico (DDL) com op\u00e7\u00f5es terap\u00eauticas. Por exemplo, o Lyso- <sup>Gb1<\/sup> foi identificado como o biomarcador mais eficaz para a doen\u00e7a de Gaucher.\u2075 Todas as an\u00e1lises podem ser feitas a partir de amostras de sangue seco com o <sup>CentoCard\u00ae<\/sup> e auxiliam no diagn\u00f3stico precoce, bem como na progress\u00e3o da doen\u00e7a e no monitoramento terap\u00eautico de um dist\u00farbio espec\u00edfico da maneira mais eficaz.<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>Ensaio enzim\u00e1tico<\/th><th>Doen\u00e7a\/S\u00edndrome<\/th><th>Tipo de doen\u00e7a<\/th><th>M\u00e9todo de detec\u00e7\u00e3o<\/th><th>Gene<\/th><\/tr><\/thead><tbody><tr><td>beta-glucocerebrosidase<\/td><td>Doen\u00e7a de Gaucher<\/td><td>LSD<\/td><td>Fluorimetria<\/td><td><em>GBA<\/em><\/td><\/tr><tr><td>alfa-galactosidase<\/td><td>Doen\u00e7a de Fabry<\/td><td>LSD<\/td><td>Fluorimetria<\/td><td><em>GLA<\/em><\/td><\/tr><tr><td>alfa-glicosidase<\/td><td>Doen\u00e7a de Pompe<\/td><td>LSD<\/td><td>Fluorimetria<\/td><td><em>GAA<\/em><\/td><\/tr><tr><td>alfa-L-iduronidase<\/td><td>S\u00edndrome de Hurler (MPS I)<\/td><td>LSD<\/td><td>Fluorimetria<\/td><td><em>IDUA<\/em><\/td><\/tr><tr><td>iduronato-2-sulfatase<\/td><td>S\u00edndrome de Hunter (MPS II)<\/td><td>LSD<\/td><td>Fluorimetria<\/td><td><em>IDS<\/em><\/td><\/tr><tr><td>arilsulfatase B<\/td><td>S\u00edndrome de Maroteaux-Lamy (MPS VI)<\/td><td>LSD<\/td><td>Fluorimetria<\/td><td><em>ARSB<\/em><\/td><\/tr><tr><td>beta-galactosidase<\/td><td>S\u00edndrome de Morquio B (MPS IV B)<\/td><td>LSD<\/td><td>Espectrometria de massa em tandem<\/td><td><em>GLB1<\/em><\/td><\/tr><tr><td>lipase \u00e1cida<\/td><td>Doen\u00e7a de Wolman<\/td><td>LSD<\/td><td>Espectrometria de massa em tandem<\/td><td><em>LIPA<\/em><\/td><\/tr><tr><td>alfa-N-acetilglucosaminidase<\/td><td>S\u00edndrome de Sanfilippo B (MPS III B)<\/td><td>LSD<\/td><td>Fluorimetria<\/td><td><em>NAGLU<\/em><\/td><\/tr><tr><td>beta-manosidase<\/td><td>Beta-manosidose<\/td><td>LSD<\/td><td>Fluorimetria<\/td><td><em>MANBA<\/em><\/td><\/tr><tr><td>alfa-fucosidase<\/td><td>Fucosidose<\/td><td>LSD<\/td><td>Fluorimetria<\/td><td><em>FUCA1<\/em><\/td><\/tr><tr><td>beta-glucuronidase<\/td><td>S\u00edndrome de Sly (MPS VII)<\/td><td>LSD<\/td><td>Fluorimetria<\/td><td><em>GUSB<\/em><\/td><\/tr><tr><td>beta-hexosaminidase<\/td><td>Doen\u00e7a de Tay-Sachs<\/td><td>LSD<\/td><td>Fluorimetria<\/td><td><em>HEXA<\/em><\/td><\/tr><tr><td>hexosaminidase total<\/td><td>Doen\u00e7a de Sandhoff<\/td><td>LSD<\/td><td>Fluorimetria<\/td><td><em>HEXB<\/em><\/td><\/tr><tr><td>alfa-N-acetilgalactosaminidase<\/td><td>Doen\u00e7a de Schindler\/Kanzaki<\/td><td>LSD<\/td><td>Fluorimetria<\/td><td><em>NAGA<\/em><\/td><\/tr><tr><td>palmitoil-prote\u00edna-tioesterase<\/td><td>Doen\u00e7a de Santavuori-Haltia<\/td><td>NCL<\/td><td>Fluorimetria<\/td><td><em>PPT1<\/em><\/td><\/tr><tr><td>tripeptidil-peptidase<\/td><td>Doen\u00e7a de Jansky-Bielschowsky<\/td><td>NCL<\/td><td>Fluorimetria<\/td><td><em>TPP1<\/em><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>Biomarcador Metab\u00f3lico<\/th><th>Doen\u00e7a\/S\u00edndrome<\/th><th>Tipo de doen\u00e7a<\/th><th>M\u00e9todo de detec\u00e7\u00e3o<\/th><th>Gene<\/th><\/tr><\/thead><tbody><tr><td>glicosilfingosina (liso-Gb1)<\/td><td>Doen\u00e7a de Gaucher<\/td><td>LSD<\/td><td>Espectrometria de massa em tandem<\/td><td><em>GBA, PSAP<\/em><\/td><\/tr><tr><td>liso-ceramida trihexos\u00eddeo (liso-Gb3)<\/td><td>Doen\u00e7a de Fabry<\/td><td>LSD<\/td><td>Espectrometria de massa em tandem<\/td><td><em>GLA, PSAP<\/em><\/td><\/tr><tr><td>liso-SM-509<\/td><td>Doen\u00e7a de Niemann-Pick tipo A\/B e tipo C<\/td><td>LSD<\/td><td>Espectrometria de massa em tandem<\/td><td><em>SMPD1, NPC1, NPC2<\/em><\/td><\/tr><tr><td>3-O-metildopa (3-OMD)<\/td><td>Defici\u00eancia de AADC<\/td><td>neurol\u00f3gico<\/td><td>Espectrometria de massa em tandem<\/td><td><em>DDC<\/em><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">Caso de sucesso: Lyso-Gb1 como o biomarcador mais eficaz para a doen\u00e7a de Gaucher<\/h2>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">O Lyso-Gb1 foi identificado como o biomarcador mais preciso para a doen\u00e7a de Gaucher (DG) <sup>5<\/sup> . Com sensibilidade e especificidade de 100% (ver abaixo), \u00e9 o biomarcador ideal para um diagn\u00f3stico sens\u00edvel e confi\u00e1vel da DG. Evid\u00eancias de dados de pacientes tamb\u00e9m comprovam que a quantifica\u00e7\u00e3o desse biomarcador pode servir como um indicador direto da carga da doen\u00e7a e da resposta ao tratamento para o monitoramento da DG. <sup>5<\/sup><\/p>\n\n\n\n<h5 class=\"wp-block-heading\">QUANTIFICA\u00c7\u00c3O DE LYSO-GB1 EM PACIENTES E PORTADORES DA DOEN\u00c7A DE GAUCHER<\/h5>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"802\" height=\"432\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_genetic_testing_200414-biomarker-LYSO-GB1-QUANTIFICATION.webp\" alt=\"\" class=\"wp-image-3416\" srcset=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_genetic_testing_200414-biomarker-LYSO-GB1-QUANTIFICATION.webp 802w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_genetic_testing_200414-biomarker-LYSO-GB1-QUANTIFICATION-768x414.webp 768w\" sizes=\"auto, (max-width: 802px) 100vw, 802px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">A sensibilidade e especificidade do teste 100% do Lyso-Gb1 resultam na maior precis\u00e3o na identifica\u00e7\u00e3o do paciente para um diagn\u00f3stico ideal.<\/p>\n\n\n\n<h5 class=\"wp-block-heading\">N\u00cdVEIS DE LYSO-GB1 EM PACIENTES COM DOEN\u00c7A DE GAUCHER EM TRATAMENTO (N=19, \u0394T M\u00c9DIO ENTRE T1-T5 = 6 SEMANAS)<\/h5>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"806\" height=\"393\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_genetic_testing_200414-biomarker-LYSO-GB1-LEVELS.webp\" alt=\"\" class=\"wp-image-3415\" srcset=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_genetic_testing_200414-biomarker-LYSO-GB1-LEVELS.webp 806w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_genetic_testing_200414-biomarker-LYSO-GB1-LEVELS-768x374.webp 768w\" sizes=\"auto, (max-width: 806px) 100vw, 806px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Os n\u00edveis de Lyso-Gb1 aumentam de forma significativa e r\u00e1pida no ponto temporal t5 ap\u00f3s uma interrup\u00e7\u00e3o for\u00e7ada do tratamento devido \u00e0 indisponibilidade tempor\u00e1ria da terapia de reposi\u00e7\u00e3o enzim\u00e1tica. Dessa forma, o Lyso-Gb1 demonstra sua excelente capacidade para o monitoramento da doen\u00e7a de Gaucher.<\/p>\n\n\n\n<h5 class=\"wp-block-heading\">Refer\u00eancias<\/h5>\n\n\n\n<p class=\"has-small-font-size wp-block-paragraph translation-block\"><sup>1.<\/sup> Testes de biomarcadores\/enzimas complementares para auxiliar na classifica\u00e7\u00e3o de variantes desconhecidas e patog\u00eanicas.<br> <sup>2<\/sup> Wittmann, Judit, et al. \u201eTriagem neonatal para doen\u00e7as de armazenamento lisoss\u00f4mico na Hungria.\u201c JIMD Reports-Case and Research Reports, 2012\/3. Springer, Berlim, Heidelberg, 2012. 117-125.<br> <sup>3<\/sup> Burlina, Alberto B., et al. \u201eTriagem neonatal para doen\u00e7as de armazenamento lisoss\u00f4mico por espectrometria de massa em tandem no nordeste da It\u00e1lia.\u201c Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism 41.2 (2018): 209-219.<br> <sup>4<\/sup> Platt, Frances M., et al. \u201eDoen\u00e7as de armazenamento lisoss\u00f4mico.\u201c Nature Reviews Disease Primers 4.1 (2018): 1-25.<br> <sup>5<\/sup> Elstein, Deborah, et al. \u201eRedu\u00e7\u00f5es na glicosilfingosina (liso-Gb1) em pacientes n\u00e3o tratados e previamente tratados que recebem velaglucerase alfa para doen\u00e7a de Gaucher tipo 1: Dados de ensaios cl\u00ednicos de fase 3.\u201c Gen\u00e9tica molecular e metabolismo 122.1-2 (2017): 113-120.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\n<h5 class=\"wp-block-heading\">Recursos<\/h5>\n\n\n\n<h4 class=\"wp-block-heading\">Links \u00fateis<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.centogene.com\/pt\/diagnosticos\/areas-clinicas\/disturbios-metabolicos\/\" data-type=\"clinical-areas\" data-id=\"801\">Testes Metab\u00f3licos<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja tableicons\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h3 class=\"wp-block-heading translation-block\">Encomende CentoMetabolic <sup>\u00ae<\/sup> MOx<\/h3>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.centoportal.com\/order\/new\/products\/analysis-method?queryType=TEST&amp;query=centometabolic%20mox\">Fa\u00e7a seu pedido agora<\/a><\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja tableicons\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h3 class=\"wp-block-heading\">Solicite um teste de biomarcador\/enzima<\/h3>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.centoportal.com\/order\/new\/products\/analysis-method?queryType=TEST&amp;productCategory=7\">Fa\u00e7a seu pedido agora<\/a><\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja tableicons\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h3 class=\"wp-block-heading\">Solicite um teste de portf\u00f3lio MOx<\/h3>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.centoportal.com\/order\/new\/products\/analysis-method?queryType=TEST&amp;query=mox\">Fa\u00e7a seu pedido agora<\/a><\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n<section class=\"bloque-personalizado bloque-cta-texto estilo-default\" >\n    <div class=\"container\"> \n                    <div class=\"image-wrapper\" style=\"background-image:url(https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_centogene_transcriptomics_multiomics_offering_20230918_2800_4_892e5e6e08-1500x844.jpg)\">\n                <!--<img decoding=\"async\" class=\"\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_centogene_transcriptomics_multiomics_offering_20230918_2800_4_892e5e6e08-1500x844.jpg\" alt=\"CentoXome MOx 2.0 Including RNA Sequencing Is Now Available\" \/>-->\n            <\/div>\n                <div class=\"row\">\n                        <div class=\"col-12 col-md-6 animation fadeLeft text-wrapper\">\n                <p class=\"bl-pretitulo\">MOx 2.0<\/p>                <div class=\"bl-titulo\">O CentoXome MOx 2.0, incluindo o sequenciamento de RNA, j\u00e1 est\u00e1 dispon\u00edvel.<\/div>\n\n                <p class=\"bl-texto\">Todos os benef\u00edcios e a qualidade do CentoGenome em apenas 5 dias \u00fateis.<\/p>                      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Este estudo analisou essa ferramenta para abrir caminho para melhores resultados de pesquisa e sa\u00fade para pacientes em todo o mundo.<\/strong><\/p>\r\n                                                                        \r\n                                   \r\n\r\n                                                                        <div class=\"bl-fecha\">\r\n                                         <time class=\"updated\" datetime=\"2022-06-23\" pubdate>23 de junho de 2022<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/pt\/topic\/metabolic-disorders\/\" class=\"cat-link\">Dist\u00farbios Metab\u00f3licos<\/a><a href=\"https:\/\/www.centogene.com\/pt\/topic\/biodatabank\/\" class=\"cat-link\">Banco de dados biol\u00f3gicos<\/a><a href=\"https:\/\/www.centogene.com\/pt\/topic\/multiomics\/\" class=\"cat-link\">Multi\u00f4mica<\/a><\/div>  \r\n                          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ferramenta de diagn\u00f3stico de primeira linha para pacientes com dist\u00farbios metab\u00f3licos heredit\u00e1rios.<\/strong><\/p>\r\n                                                                        \r\n                                   \r\n\r\n                                                                            <div class=\"bl-autores\">\r\n                                        Autor(es): Bertoli-Avella, Aida M., MD                                        <\/div>\r\n                                                                        <div class=\"bl-fecha\">\r\n                                         <time class=\"updated\" datetime=\"2022-06-22\" pubdate>22 de junho de 2022<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/pt\/topic\/metabolic-disorders\/\" class=\"cat-link\">Dist\u00farbios Metab\u00f3licos<\/a><a 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