{"id":2998,"date":"2022-10-11T15:16:55","date_gmt":"2022-10-11T15:16:55","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=2998"},"modified":"2022-11-25T17:21:06","modified_gmt":"2022-11-25T17:21:06","slug":"enfermedades-metabolicas-ligadas-al-x","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/fr\/enfermedades-metabolicas-ligadas-al-x\/","title":{"rendered":"Maladies m\u00e9taboliques li\u00e9es \u00e0 l'X."},"content":{"rendered":"<p class=\"wp-block-paragraph\">La plupart des erreurs inn\u00e9es du m\u00e9tabolisme sont des maladies autosomiques r\u00e9cessives. Il existe cependant quelques exceptions. <\/p>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-19cd6d16\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Traitable et avec manifestation sur le SNC (d\u00e9ficience intellectuelle).<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK3794\/\">D\u00e9ficit du transporteur c\u00e9r\u00e9bral de cr\u00e9atine (SLC6A2).<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1315\/\">Adr\u00e9noleucodystrophie li\u00e9e \u00e0 l'X (ABCD1). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1274\/\">Syndrome de Hunter (IDS). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK154378\/\">D\u00e9ficit en ornithine transcarbamylase (OTC). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK571223\/\">D\u00e9ficit en pyruvate d\u00e9shydrog\u00e9nase (PDHA1). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1332\/\">PIGA-CDG. <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1973\/\">D\u00e9ficit en phosphoribosylpyrophosphate synth\u00e9tase (PRPS1). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1332\/\">SLC35A2-CDG. <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1413\/\">Syndrome de Menk\u00e8s (ATP7A).<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Maladies neuromusculaires m\u00e9taboliques. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1292\/\">Maladie de Fabry (GLA). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK554742\/\">Maladie de Danon (LAMP2).<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Pour une liste compl\u00e8te de toutes les maladies li\u00e9es \u00e0 l'X, vous pouvez consulter sur <a href=\"https:\/\/www.omim.org\/geneMap\/X?start=1&amp;limit=100\">OMIM<\/a>. <\/p>","protected":false},"excerpt":{"rendered":"<p>La plupart des erreurs inn\u00e9es du m\u00e9tabolisme sont des maladies autosomiques r\u00e9cessives. Il existe cependant quelques exceptions. Pour une liste compl\u00e8te de toutes les maladies li\u00e9es \u00e0 l\u2019X, vous pouvez consulter l\u2019OMIM.<\/p>","protected":false},"author":1,"featured_media":3000,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[44,7,10],"tags":[],"class_list":["post-2998","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-consejo-genetico-y-herencia","category-metabolismo","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts\/2998","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/comments?post=2998"}],"version-history":[{"count":0,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts\/2998\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/media\/3000"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/media?parent=2998"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/categories?post=2998"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/tags?post=2998"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}