{"id":39364,"date":"2026-07-02T18:00:00","date_gmt":"2026-07-02T16:00:00","guid":{"rendered":"https:\/\/www.mgc.es\/?p=39364"},"modified":"2026-06-29T11:53:09","modified_gmt":"2026-06-29T09:53:09","slug":"galactosemia-que-es-tipus-simptomes-i-com-afecta-els-nadons","status":"publish","type":"post","link":"https:\/\/www.mgc.es\/ca\/blog\/galactosemia-que-es-tipus-simptomes-i-com-afecta-els-nadons\/","title":{"rendered":"Galactos\u00e8mia: qu\u00e8 \u00e9s, tipus, s\u00edmptomes i com afecta els nadons"},"content":{"rendered":"<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-custom ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\"><p class=\"ez-toc-title\" style=\"cursor:inherit\">\u00cdndex de continguts<\/p>\n<\/div><nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.mgc.es\/ca\/blog\/galactosemia-que-es-tipus-simptomes-i-com-afecta-els-nadons\/#Tipus_de_galactosemia\" >Tipus de galactos\u00e8mia<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.mgc.es\/ca\/blog\/galactosemia-que-es-tipus-simptomes-i-com-afecta-els-nadons\/#Simptomes_de_la_galactosemia_en_nadons\" >S\u00edmptomes de la galactos\u00e8mia en nadons<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.mgc.es\/ca\/blog\/galactosemia-que-es-tipus-simptomes-i-com-afecta-els-nadons\/#Diagnostic_de_la_galactosemia\" >Diagn\u00f2stic de la galactos\u00e8mia<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.mgc.es\/ca\/blog\/galactosemia-que-es-tipus-simptomes-i-com-afecta-els-nadons\/#Tractament_de_la_galactosemia\" >Tractament de la galactos\u00e8mia<\/a><\/li><\/ul><\/nav><\/div>\n\n<p class=\"wp-block-paragraph\">La galactos\u00e8mia \u00e9s una malaltia metab\u00f2lica heredit\u00e0ria poc freq\u00fcent que impedeix a l\u2019organisme processar correctament la galactosa, un sucre simple present en la lactosa de la llet i en tots els productes lactis.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Les persones amb galactos\u00e8mia no poden metabolitzar la galactosa, per la qual cosa han d\u2019eliminar-la completament de la seva dieta des del naixement i durant tota la vida.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Es tracta d\u2019un trastorn gen\u00e8tic autos\u00f2mic recessiu que es transmet de pares a fills. Quan tots dos progenitors s\u00f3n portadors del gen alterat, hi ha un 25&nbsp;% de probabilitat que el fill pateixi la malaltia i un 50&nbsp;% que sigui portador.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"880\" height=\"587\" src=\"https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/talo\u0301n-bebe\u0301-880x587.jpg\" alt=\"\" class=\"wp-image-39363\" srcset=\"https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/talo\u0301n-bebe\u0301-880x587.jpg 880w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/talo\u0301n-bebe\u0301-440x293.jpg 440w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/talo\u0301n-bebe\u0301-768x512.jpg 768w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/talo\u0301n-bebe\u0301-1536x1025.jpg 1536w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/talo\u0301n-bebe\u0301-scaled.jpg 1024w\" sizes=\"auto, (max-width: 880px) 100vw, 880px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Els pacients amb <a href=\"https:\/\/medlineplus.gov\/spanish\/ency\/article\/000366.htm\">galactos\u00e8mia<\/a> s\u00f3n incapa\u00e7os de descompondre completament la galactosa. Si un nad\u00f3 afectat s\u2019alimenta amb llet materna o de f\u00f3rmula convencional, els derivats de la galactosa s\u2019acumulen a l\u2019organisme i poden provocar danys greus al fetge, al cervell, als ronyons i als ulls, causant fins i tot cataractes.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Sense un diagn\u00f2stic preco\u00e7 i un tractament diet\u00e8tic adequat, la galactos\u00e8mia pot ser mortal fins en un 75&nbsp;% dels casos.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Tipus_de_galactosemia\"><\/span>Tipus de galactos\u00e8mia<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Existeixen tres tipus principals de galactos\u00e8mia segons l\u2019enzim afectat:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Defici\u00e8ncia de galactosa-1-fosfat uridiltransferasa (GALT)<\/strong>. \u00c9s la forma cl\u00e0ssica, la m\u00e9s freq\u00fcent i la m\u00e9s greu.<\/li>\n\n\n\n<li><strong>Defici\u00e8ncia de galactocinasa (GALK)<\/strong>. Es manifesta principalment amb cataractes i requereix una restricci\u00f3 estricta de galactosa.<\/li>\n\n\n\n<li><strong>Defici\u00e8ncia de galactosa-6-fosfat epimerasa (GALE)<\/strong>. Pot presentar-se en diferents formes amb graus variables de toler\u00e0ncia.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Simptomes_de_la_galactosemia_en_nadons\"><\/span>S\u00edmptomes de la galactos\u00e8mia en nadons<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Els nadons amb galactos\u00e8mia poden presentar s\u00edmptomes en els primers dies de vida si s\u00f3n alimentats amb llet que contingui galactosa. Poden desenvolupar infeccions greus com les produ\u00efdes per <a href=\"https:\/\/hospital.vallhebron.com\/es\/asistencia\/enfermedades\/infeccion-por-escherichia-coli\">Escherichia coli<\/a>.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Icter\u00edcia<\/li>\n\n\n\n<li>Diarrea i v\u00f2mits<\/li>\n\n\n\n<li>Estancament del pes<\/li>\n\n\n\n<li>Convulsions i letargia<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Diagnostic_de_la_galactosemia\"><\/span>Diagn\u00f2stic de la galactos\u00e8mia<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">A Catalunya i a tot l\u2019Estat, la galactos\u00e8mia es detecta mitjan\u00e7ant la <a href=\"https:\/\/www.mgc.es\/ca\/blog\/prova-talo-nadons-recent-nascuts\/\">prova del tal\u00f3<\/a>, una prova de cribratge neonatal obligat\u00f2ria.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Mesura de l\u2019activitat de l\u2019enzim GALT.<\/li>\n\n\n\n<li>Pres\u00e8ncia de <a href=\"https:\/\/www.mgc.es\/ca\/blog\/dieta-cetogenica-tot-el-que-has-de-saber\/\">cossos cet\u00f2nics<\/a> a l\u2019orina.<\/li>\n\n\n\n<li>Estudi gen\u00e8tic confirmatori.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Tractament_de_la_galactosemia\"><\/span>Tractament de la galactos\u00e8mia<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">El tractament consisteix a eliminar de per vida la llet materna, la llet animal i tots els <a href=\"https:\/\/www.mgc.es\/ca\/blog\/lactis-si-o-no-10-pros-i-contres-de-suprimir-los\/\">productes lactis<\/a>, aix\u00ed com qualsevol aliment que contingui galactosa.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Gr\u00e0cies al diagn\u00f2stic preco\u00e7 i al seguiment m\u00e8dic, la majoria dels infants amb galactos\u00e8mia poden fer una vida normal.<\/p>\n\n\n\n<div style=\"height:50px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<hr class=\"wp-block-separator has-text-color has-cyan-bluish-gray-color has-alpha-channel-opacity has-cyan-bluish-gray-background-color has-background\"\/>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Bibliografia<\/strong>:<br>\n<a href=\"https:\/\/www.msdmanuals.com\/es\/hogar\/salud-infantil\/trastornos-metab%C3%B3licos-hereditarios\/galactosemia\">Manual MSD: Galactos\u00e8mia<\/a><br>\n<a href=\"https:\/\/www.enfermedades-raras.org\/enfermedades-raras\/patologias\/galactosemia\">FEDER: Galactos\u00e8mia<\/a>\n<\/p>\n","protected":false},"excerpt":{"rendered":"<p>La galactos\u00e8mia \u00e9s una malaltia metab\u00f2lica heredit\u00e0ria poc freq\u00fcent que impedeix a l\u2019organisme processar correctament la galactosa, un sucre simple present en la lactosa de la llet i en tots els productes lactis. Les persones amb galactos\u00e8mia no poden metabolitzar la galactosa, per la qual cosa han d\u2019eliminar-la completament de la seva dieta des del [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":39363,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[15],"tags":[],"class_list":["post-39364","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-salut"],"featured_image_src":"https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/talo\u0301n-bebe\u0301-scaled.jpg","author_info":{"display_name":"Revista Inter\u00e8s Mutu","author_link":"https:\/\/www.mgc.es\/ca\/blog\/author\/interesmutu\/"},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Galactos\u00e8mia: qu\u00e8 \u00e9s, tipus, s\u00edmptomes i com afecta els nadons - MGC M\u00fatua<\/title>\n<meta name=\"description\" content=\"Galactos\u00e8mia: malaltia metab\u00f2lica heredit\u00e0ria que afecta els nadons. 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