{"id":3578,"date":"2022-11-04T18:06:50","date_gmt":"2022-11-04T18:06:50","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=3578"},"modified":"2022-11-05T18:39:54","modified_gmt":"2022-11-05T18:39:54","slug":"transportopatias","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/transportopatias\/","title":{"rendered":"Transportopat\u00edas."},"content":{"rendered":"\n<figure class=\"wp-block-image size-large\"><img fetchpriority=\"high\" decoding=\"async\" width=\"1024\" height=\"680\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-41-1024x680.png\" alt=\"\" class=\"wp-image-3584\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-41-1024x680.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-41-300x199.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-41-768x510.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-41-1536x1020.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-41-18x12.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-41-1568x1041.png 1568w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-41.png 1949w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>Transportopat\u00edas SLC con afectaci\u00f3n neurol\u00f3gica y tratamiento identificado.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1430\/\"><em>SLC2A1<\/em> produce el d\u00e9ficit de Glut-1 o enfermedad de De Vito<\/a>, que se manifiesta con diston\u00eda o epilepsia, y puede ser tratada con dieta cetog\u00e9nica.  <\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK442323\/\"><em>SLC6A3<\/em>, produce el s\u00edndrome de diston\u00eda-parkinsonismo tipo 1<\/a>, que puede ser tratado con levodopa. <\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1260\/\"><em>SLC6A5<\/em>, produce la hiperekplexia tipo 3<\/a>, para la que es innecesario el tratamiento con antiepil\u00e9pticos, los cuales deben evitarse.  <\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK3794\/\"><em>SLC6A8<\/em> produce el s\u00edndrome de deficiencia de creatina cerebral tipo 1<\/a>, una enfermedad ligada al X que puede ser tratado con suplementos de creatina.  <\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1375\/\"><em>SLC16A1<\/em> produce d\u00e9ficit de MCT1 (d\u00e9ficit de transportador de monocarboxilato tipo 1)<\/a>, que se presenta en forma de epilepsia y episodios de cetoacidosis grave con las infecciones, y no debe tratarse con dieta cetog\u00e9nica.  <\/li>\n\n\n\n<li><em>SLC19A3<\/em> led to biotin-thiamine-responsive basal ganglia disease, which can be treated with biotin and thiamine; <\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK299312\/\"><em>SLC52A3<\/em>, produce el s\u00edndrome de Brown-Vialetto-Van-Laere tipo 1<\/a>, que se puede tratar con riboflavina.<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"850\" height=\"545\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-38.png\" alt=\"\" class=\"wp-image-3579\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-38.png 850w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-38-300x192.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-38-768x492.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-38-18x12.png 18w\" sizes=\"(max-width: 850px) 100vw, 850px\" \/><\/figure>\n\n\n\n<p>Otras transportopat\u00edas SLC con sintomatolog\u00eda neurol\u00f3gica, a\u00fan sin tratamiento curativo.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK26373\/\">SLC16A2, s\u00edndrome de Allan-Herndon-Dudley, o d\u00e9ficit de MCT8<\/a>, enfermedad ligada al X que produce retraso global del desarrollo y trastorno del movimiento, frecuentemente en forma de espasticidad. <\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK465013\/\">SLC6A9, produce la encefalopat\u00eda por d\u00e9ficit de transportador de glicina (GLYT1-encephalopathy)<\/a> que forma parte del diagn\u00f3stico diferencial de la hiperglicinemia no cet\u00f3sica cl\u00e1sica. <\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK537476\/\">SLC12A5, produce la epilepsia de la infancia con crisis focales migratorias relacionada con SLC12A5<\/a>, una encefalopat\u00eda epil\u00e9ptica y del desarrollo farmacorresistente de inicio en la primera infancia. <\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK431123\/\">SLC39A14, produce el s\u00edndrome de diston\u00eda-parkinsonismo de inicio precoz relacionado con SLC39A2<\/a>, un tipo de parkinsonismo hereditario que entra en el diagn\u00f3stico diferencial de otras enfermedades neurodegenerativas de inicio precoz con trastorno del movimiento asociado. <\/li>\n<\/ul>\n\n\n\n<p>Otras transportopat\u00edas no SLC: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1413\/\">ATP7B, produce los s\u00edndromes relacionados con el d\u00e9ficit de transporte de cobre<\/a>, entre los que se encuentran la enfermedad de Wilson y s\u00edndrome del cuerno occipital. <\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1115\/\">ATP1A3, produce los trastornos neurol\u00f3gicos relacionados con ATP1A3<\/a>, un conjunto de enfermedades con distinta semiolog\u00eda que incluye al menos 3 fenotipos, la hemiplegia alternante de la infancia, el s\u00edndrome de diston\u00eda-parkinsonismo de inicio r\u00e1pido, y el 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The ABCs of membrane transporters in health and disease (SLC series): Introduction. Molecular Aspects of Medicine [Internet]. 2013 Apr 1 [cited 2019 Sept 12];34(2):95\u2013107. Available from: <a class='zp-ItemURL' href='http:\/\/www.sciencedirect.com\/science\/article\/pii\/S0098299712001434'>http:\/\/www.sciencedirect.com\/science\/article\/pii\/S0098299712001434<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\t\t\t\t<div id=\"zp-ID-3578-332710-C49VTXFY\" data-zp-author-date='Mir-et-al.-2022-01-01' data-zp-date-author='2022-01-01-Mir-et-al.' data-zp-date='2022-01-01' data-zp-year='2022' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Mir A, Almudhry M, Alghamdi F, Albaradie R, Ibrahim M, Aldurayhim F, et al. SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population. Hum Genet [Internet]. 2022 Jan 1 [cited 2022 Nov 4];141(1):81\u201399. Available from: <a class='zp-ItemURL' href='https:\/\/doi.org\/10.1007\/s00439-021-02404-x'>https:\/\/doi.org\/10.1007\/s00439-021-02404-x<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n","protected":false},"excerpt":{"rendered":"<p>Transportopat\u00edas SLC con afectaci\u00f3n neurol\u00f3gica y tratamiento identificado. Otras transportopat\u00edas SLC con sintomatolog\u00eda neurol\u00f3gica, a\u00fan sin tratamiento curativo. Otras transportopat\u00edas no SLC:<\/p>","protected":false},"author":1,"featured_media":3704,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[3,10,43],"tags":[],"class_list":["post-3578","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-enfermedades-neurologicas","category-neurogenetica","category-trastornos-del-neurodesarrollo","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/3578","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=3578"}],"version-history":[{"count":0,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/3578\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/3704"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=3578"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=3578"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=3578"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}