{"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\/en\/enfermedades-metabolicas-ligadas-al-x\/","title":{"rendered":"Metabolic diseases are linked to X."},"content":{"rendered":"<p>Most inborn errors of metabolism are autosomal recessive diseases. However, there are some 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>Treatable and with manifestation in the CNS (intellectual disability).<\/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\/\">Cerebral creatine transporter deficiency (SLC6A2).<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1315\/\">X-linked adrenoleukodystrophy (ABCD1). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1274\/\">Hunter syndrome (IDS). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK154378\/\">Ornithine transcarbamylase deficiency (OTC). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK571223\/\">Pyruvate dehydrogenase deficiency (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\/\">Phosphoribosylpyrophosphate synthetase deficiency (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\/\">Menkes syndrome (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>Metabolic neuromuscular diseases. <\/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\/\">Fabry disease (GLA). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK554742\/\">Danon disease (LAMP2).<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n\n\n\n<p>For a complete list of all X-linked diseases, you can consult <a href=\"https:\/\/www.omim.org\/geneMap\/X?start=1&amp;limit=100\">OMIM<\/a>. <\/p>","protected":false},"excerpt":{"rendered":"<p>Most inborn errors of metabolism are autosomal recessive diseases. However, there are some exceptions. For a complete list of all X-linked diseases, you can consult OMIM.<\/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\/en\/wp-json\/wp\/v2\/posts\/2998","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=2998"}],"version-history":[{"count":0,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2998\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/3000"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=2998"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=2998"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=2998"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}