{"id":4816,"date":"2023-03-03T21:59:47","date_gmt":"2023-03-03T21:59:47","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=4816"},"modified":"2023-12-29T18:37:41","modified_gmt":"2023-12-29T18:37:41","slug":"cuando-sospechar-un-error-congenito-del-metabolismo","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/cuando-sospechar-un-error-congenito-del-metabolismo\/","title":{"rendered":"When do you suspect an error congenital metabolism?"},"content":{"rendered":"\n<p>Los errores cong\u00e9nitos del metabolismo son enfermedades habitualmente de herencia autos\u00f3mico recesiva (aunque existen <a href=\"https:\/\/neuropediatoolkit.org\/enfermedades-metabolicas-ligadas-al-x\/\">algunos de herencia ligada al X<\/a>), y que en algunos casos son <a href=\"http:\/\/neuropediatoolkit.org\/protocolo-de-causas-tratables\/\">susceptibles de tratamiento curativo<\/a>, motivo por el que es importante identificarlos precozmente. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Antecedentes familiares de aborto o mortalidad infantil no explicada.<\/li>\n\n\n\n<li>Antecedentes familiares de trastornos del neurodesarrollo con&nbsp;<a href=\"http:\/\/neuropediatoolkit.org\/patrones-de-herencia\/\">patr\u00f3n autos\u00f3mico recesivo<\/a>&nbsp;(hermanos).<\/li>\n\n\n\n<li>Historia de&nbsp;<a href=\"http:\/\/neuropediatoolkit.org\/consanguinidad\/\">consanguinidad<\/a>.<\/li>\n\n\n\n<li>Antecedentes gestacionales de hepatopat\u00eda (HELLP, higado graso agudo del embarazo).<\/li>\n\n\n\n<li>Historia neonatal de:\n<ul class=\"wp-block-list\">\n<li>Sepsis sin evidencia de infecci\u00f3n.<\/li>\n\n\n\n<li>Problemas de alimentaci\u00f3n, fallo de medro, v\u00f3mitos de repetici\u00f3n, hepatopat\u00eda.<\/li>\n\n\n\n<li>Letargia, hipoton\u00eda, encefalopat\u00eda progresiva, epilepsia neonatal.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Curso progresivo en la infancia,&nbsp;<a href=\"http:\/\/neuropediatoolkit.org\/pind-progressive-intellectual-and-neurological-deterioration\/\">regresi\u00f3n del desarrollo<\/a>.<\/li>\n\n\n\n<li>Trastornos del movimiento asociado (ataxia, diston\u00eda).<\/li>\n\n\n\n<li>Datos de la&nbsp;<a href=\"http:\/\/neuropediatoolkit.org\/treatable-id\/\">exploraci\u00f3n cl\u00ednica<\/a>:\n<ul class=\"wp-block-list\">\n<li>Neurol\u00f3gicos.\n<ul class=\"wp-block-list\">\n<li>Trastorno del movimiento (ataxia, diston\u00eda, corea).<\/li>\n\n\n\n<li>Epilepsia farmacorresistente, especialmente si miocl\u00f3nica y temprana.<\/li>\n\n\n\n<li>Microcefalia o macrocefalia.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>No neurol\u00f3gicos.\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/facies-tosca\/\">Facies tosca.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/neuropediatoolkit.org\/enfermedades-metabolicas-con-dismorfia\/\">Otras dismorfias.<\/a><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Ausencia de otra causa explicable.<\/li>\n\n\n\n<li>S\u00edntomas recurrentes precipitados por episodios catab\u00f3licos (infecci\u00f3n, ejercicio, ayuno) o ciertos alimentos o medicaciones.<\/li>\n\n\n\n<li>Aversi\u00f3n a determinados alimentos.<\/li>\n\n\n\n<li>Intolerancia al ejercicio.<\/li>\n\n\n\n<li>Hepatoesplenomegalia<\/li>\n<\/ul>\n\n\n<div id=\"zotpress-34105acf9ab5a4991967b953a77d5321\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">332710<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:5Z4GEKU9}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY 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id=\"zp-ID-4816-332710-5Z4GEKU9\" data-zp-author-date='-0000-00-00' data-zp-date-author='0000-00-00-' data-zp-date='0000-00-00' data-zp-year='0000' data-zp-itemtype='webpage' 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;\">Developmental delay: when to suspect and how to investigate for an inborn error of metabolism | Archives of Disease in Childhood [Internet]. [cited 2017 June 5]. Available from: <a class='zp-ItemURL' href='http:\/\/adc.bmj.com\/content\/90\/11\/1128'>http:\/\/adc.bmj.com\/content\/90\/11\/1128<\/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>Los errores cong\u00e9nitos del metabolismo son enfermedades habitualmente de herencia autos\u00f3mico recesiva (aunque existen algunos de herencia ligada al X), y que en algunos casos son susceptibles de tratamiento curativo, motivo por el que es importante identificarlos precozmente.<\/p>","protected":false},"author":1,"featured_media":4817,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[7],"tags":[],"class_list":["post-4816","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-metabolismo","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/4816","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=4816"}],"version-history":[{"count":10,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/4816\/revisions"}],"predecessor-version":[{"id":7095,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/4816\/revisions\/7095"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/4817"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=4816"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=4816"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=4816"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}