{"id":262,"date":"2023-11-23T16:12:59","date_gmt":"2023-11-23T16:12:59","guid":{"rendered":"https:\/\/www.mct8.info\/about-mct8-ahds\/"},"modified":"2023-12-08T12:21:13","modified_gmt":"2023-12-08T12:21:13","slug":"about-mct8-ahds","status":"publish","type":"page","link":"https:\/\/www.mct8.info\/es\/about-mct8-ahds\/","title":{"rendered":"MCT8-AHDS \u00bfQu\u00e9 es?"},"content":{"rendered":"\n<p>La deficiencia de MCT8-SAHD, tambi\u00e9n conocida bajo el nombre de s\u00edndrome de Allan-Herndon-Dudley<\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\n<iframe loading=\"lazy\" title=\"What is Allan-Herndon-Dudley syndrome (MCT8 deficiency)\" width=\"500\" height=\"281\" src=\"https:\/\/www.youtube.com\/embed\/0fN0Cix2GZo?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe>\n<\/div><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">La deficiencia de MCT8, tambi\u00e9n conocida bajo el nombre de s\u00edndrome de Allan-Herndon-Dudley, es un trastorno gen\u00e9tico ligado al cromosoma X que s\u00f3lo afecta a los ni\u00f1os varones.<\/h2>\n\n\n\n<div class=\"wp-block-group is-nowrap is-layout-flex wp-container-core-group-is-layout-ad2f72ca wp-block-group-is-layout-flex\">\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 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<p>La deficiencia de MCT8-SAHD, tambi\u00e9n conocida bajo el nombre de s\u00edndrome de Allan-Herndon-Dudley.\u00a0<\/p>\n\n\n\n<p>MCT8-SAHD es un trastorno neurol\u00f3gico que afecta la movilidad, la cognici\u00f3n y la salud en general. La deficiencia de MCT8-SAHD, tambi\u00e9n conocida bajo el nombre de s\u00edndrome de Allan-Herndon-Dudley, es un trastorno gen\u00e9tico ligado al cromosoma X que s\u00f3lo afecta a los ni\u00f1os varones. El MCT8 (transportador de monocarboxilatos 8) es el producto proteico del gen SLC16A2 y es una de las sustancias prote\u00ednicas que se encuentran en las membranas celulares que son responsables del transporte de las hormonas tiroideas al interior del cerebro. Las hormonas tiroideas son particularmente importantes para el desarrollo adecuado del cerebro durante las etapas embrionarias y de la primera infancia de un ni\u00f1o. La falta de hormonas tiroideas en el cerebro durante estos per\u00edodos se asocia con el retraso mental.<\/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<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"797\" src=\"https:\/\/www.mct8.info\/wp-content\/uploads\/2023\/11\/Picture1_5-1024x797.png\" alt=\"\" class=\"wp-image-25\" srcset=\"https:\/\/www.mct8.info\/wp-content\/uploads\/2023\/11\/Picture1_5-1024x797.png 1024w, https:\/\/www.mct8.info\/wp-content\/uploads\/2023\/11\/Picture1_5-300x234.png 300w, https:\/\/www.mct8.info\/wp-content\/uploads\/2023\/11\/Picture1_5-768x598.png 768w, https:\/\/www.mct8.info\/wp-content\/uploads\/2023\/11\/Picture1_5.png 1200w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<div class=\"wp-block-group is-nowrap is-layout-flex wp-container-core-group-is-layout-ad2f72ca wp-block-group-is-layout-flex\">\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 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<p>Debido a la mutaci\u00f3n gen\u00e9tica del transportador MCT8, la barrera hematoencef\u00e1lica, que es la protectora m\u00e1s importante del cerebro frente a cualquier amenaza, no reconoce al portador y, como resultado, no permite su entrada al cerebro. Como resultado, el cerebro se ve obligado a desarrollarse sin la ayuda esencial de las hormonas tiroideas. Mientras tanto, las hormonas rechazadas regresan al cuerpo, aumentando la toxicidad de la sangre y creando complicaciones que amenazan la vida de los pacientes. Las pruebas de sangre comunes que pueden indicar la existencia de MCT8-SAHD son los niveles altos de la hormona T3 y los niveles al l\u00edmite bajo o bajos de la hormona T4. Ya que otros tejidos tienen transportadores alternativos, los altos niveles de la hormona T3 aumentan su metabolismo. Este metabolismo elevado puede reflejarse en la incapacidad de aumentar o mantener el peso, la frecuencia card\u00edaca aumentada y muchos otros s\u00edntomas.<\/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<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"562\" height=\"1024\" src=\"https:\/\/www.mct8.info\/wp-content\/uploads\/2023\/11\/Picture3_6-562x1024.png\" alt=\"\" class=\"wp-image-28\" srcset=\"https:\/\/www.mct8.info\/wp-content\/uploads\/2023\/11\/Picture3_6-562x1024.png 562w, https:\/\/www.mct8.info\/wp-content\/uploads\/2023\/11\/Picture3_6-165x300.png 165w, https:\/\/www.mct8.info\/wp-content\/uploads\/2023\/11\/Picture3_6.png 564w\" sizes=\"auto, (max-width: 562px) 100vw, 562px\" \/><\/figure>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p>Aunque s\u00f3lo los ni\u00f1os varones presentan s\u00edntomas y pueden tener MCT8-SAHD, las ni\u00f1as tambi\u00e9n pueden ser portadoras de la mutaci\u00f3n, pero sin presentar s\u00edntomas. Eso se debe al hecho de que las ni\u00f1as tienen dos cromosomas X. Si uno de los cromosomas est\u00e1 afectado, el cuerpo puede seguir usando la copia correcta del segundo cromosoma.<\/p>\n\n\n\n<p>MCT8-SAHD fue descubierto en 1944 por William Allan, Florance Dudley y Nash Herndon. Estos cient\u00edficos estudiaron una discapacidad intelectual hereditaria con anomal\u00edas motoras en ni\u00f1os varones. Luego en 1990, casi medio siglo despu\u00e9s, se realiz\u00f3 el primer mapa gen\u00e9tico. MCT8-SAHD ha sido uno de los primeros s\u00edndromes gen\u00e9ticos que ha sido mapeado.&nbsp; Trece a\u00f1os m\u00e1s tarde, en octubre de 2003, se confirm\u00f3 la primera conexi\u00f3n entre el transportador de monocarboxilatos 8 (MCT8) y el s\u00edndrome de Allan-Herndon-Dudley.<\/p>\n\n\n\n<p>Seg\u00fan <a href=\"http:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=1315&amp;Disease_Disease_Search_diseaseGroup=Allan-Herndon-Dudley-syndrome&amp;Disease_Disease_Search_diseaseType=Pat&amp;Disease(s)\/group%20of%20diseases=Allan-Herndon-Dudley-syndrome&amp;title=Allan-H\">Orpha.net<\/a>, en 2016 hab\u00eda unos 320 casos de MCT8-SAHD en todo el mundo. Todav\u00eda se desconoce la prevalencia de este s\u00edndrome.<\/p>\n\n\n\n<p>En Europa, este s\u00edndrome est\u00e1 conocido bajo el nombre de \u00abs\u00edndrome de Allan-Herndon-Dudley\u00bb, mientras que en los Estados Unidos y el Canad\u00e1 se prefiere el t\u00e9rmino \u00ab deficiencia de MCT8 \u00bb<\/p>\n","protected":false},"excerpt":{"rendered":"<p>La deficiencia de MCT8-SAHD, tambi\u00e9n conocida bajo el nombre de s\u00edndrome de Allan-Herndon-Dudley La deficiencia de MCT8, tambi\u00e9n conocida bajo el nombre de s\u00edndrome de Allan-Herndon-Dudley, es un trastorno gen\u00e9tico ligado al cromosoma X que s\u00f3lo afecta a los ni\u00f1os varones. La deficiencia de MCT8-SAHD, tambi\u00e9n conocida bajo el nombre de s\u00edndrome de Allan-Herndon-Dudley.\u00a0 MCT8-SAHD [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-262","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.4 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>MCT8-AHDS \u00bfQu\u00e9 es? - MCT8 - AHDS Foundation<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.mct8.info\/es\/about-mct8-ahds\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"MCT8-AHDS \u00bfQu\u00e9 es? - MCT8 - AHDS Foundation\" \/>\n<meta property=\"og:description\" content=\"La deficiencia de MCT8-SAHD, tambi\u00e9n conocida bajo el nombre de s\u00edndrome de Allan-Herndon-Dudley La deficiencia de MCT8, tambi\u00e9n conocida bajo el nombre de s\u00edndrome de Allan-Herndon-Dudley, es un trastorno gen\u00e9tico ligado al cromosoma X que s\u00f3lo afecta a los ni\u00f1os varones. 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