{"id":39214,"date":"2026-06-25T18:00:00","date_gmt":"2026-06-25T16:00:00","guid":{"rendered":"https:\/\/www.mgc.es\/?p=39214"},"modified":"2026-06-08T17:58:35","modified_gmt":"2026-06-08T15:58:35","slug":"viure-amb-leucinosi-cures-tractament-i-seguiment-medic","status":"publish","type":"post","link":"https:\/\/www.mgc.es\/ca\/blog\/viure-amb-leucinosi-cures-tractament-i-seguiment-medic\/","title":{"rendered":"Viure amb leucinosi: cures, tractament i seguiment m\u00e8dic"},"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\/viure-amb-leucinosi-cures-tractament-i-seguiment-medic\/#Que_es_la_leucinosi\" >Qu\u00e8 \u00e9s la leucinosi<\/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\/viure-amb-leucinosi-cures-tractament-i-seguiment-medic\/#Quines_son_les_causes_de_la_leucinosi\" >Quines s\u00f3n les causes de la leucinosi<\/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\/viure-amb-leucinosi-cures-tractament-i-seguiment-medic\/#Quins_simptomes_produeix\" >Quins s\u00edmptomes produeix<\/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\/viure-amb-leucinosi-cures-tractament-i-seguiment-medic\/#Com_es_diagnostica\" >Com es diagnostica<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.mgc.es\/ca\/blog\/viure-amb-leucinosi-cures-tractament-i-seguiment-medic\/#Com_es_tracta_la_leucinosi\" >Com es tracta la leucinosi<\/a><\/li><\/ul><\/nav><\/div>\n\n<p class=\"wp-block-paragraph\">La leucinosi, tamb\u00e9 coneguda com a <strong>malaltia de l\u2019orina amb olor de xarop d\u2019aur\u00f3<\/strong>, \u00e9s una patologia metab\u00f2lica rara que requereix un diagn\u00f2stic preco\u00e7, tractament urgent i un seguiment m\u00e8dic i nutricional estricte al llarg de tota la vida. Amb un control adequat, \u00e9s possible millorar el pron\u00f2stic i la qualitat de vida del pacient.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Que_es_la_leucinosi\"><\/span>Qu\u00e8 \u00e9s la leucinosi<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La leucinosi \u00e9s una malaltia heredit\u00e0ria que provoca una alteraci\u00f3 del metabolisme dels amino\u00e0cids de cadena ramificada: leucina, isoleucina i valina. Est\u00e0 inclosa dins de les <a href=\"https:\/\/www.elsevier.es\/es-revista-revista-medica-clinica-las-condes-202-articulo-las-enfermedades-raras-S0716864015000905\">malalties rares<\/a>, amb una incid\u00e8ncia aproximada d\u20191 cas per cada 250.000 nounats vius. Afecta per igual tots els grups \u00e8tnics i ambd\u00f3s sexes.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Un dels seus signes m\u00e9s caracter\u00edstics \u00e9s que els fluids corporals desprenen una olor dol\u00e7a, similar a la del xarop d\u2019aur\u00f3 (<em>maple syrup<\/em>), fet que ha donat lloc a la seva denominaci\u00f3 alternativa.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"880\" height=\"583\" src=\"https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/neonato-dormido-880x583.jpg\" alt=\"\" class=\"wp-image-39208\" srcset=\"https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/neonato-dormido-880x583.jpg 880w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/neonato-dormido-440x291.jpg 440w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/neonato-dormido-768x509.jpg 768w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/neonato-dormido-1536x1017.jpg 1536w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/neonato-dormido-2048x1357.jpg 2048w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/neonato-dormido-scaled.jpg 1024w\" sizes=\"auto, (max-width: 880px) 100vw, 880px\" \/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Quines_son_les_causes_de_la_leucinosi\"><\/span>Quines s\u00f3n les causes de la leucinosi<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Es tracta d\u2019una malaltia gen\u00e8tica autos\u00f2mica recessiva, \u00e9s a dir, que cal que tots dos progenitors siguin portadors del gen alterat perqu\u00e8 el fill desenvolupi la malaltia.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Les mutacions afecten els gens <strong>BCKDHA, BCKDHB, DBT o DLD<\/strong>, responsables de codificar el complex enzim\u00e0tic <a href=\"https:\/\/rarediseases.org\/es\/rare-diseases\/maple-syrup-urine-disease\/\">BCKAD<\/a> (deshidrogenasa dels alfa-ceto\u00e0cids de cadena ramificada). Aquesta alteraci\u00f3 fa que l\u2019organisme sigui incapa\u00e7 de metabolitzar correctament la leucina, la isoleucina i la valina.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Com a conseq\u00fc\u00e8ncia, aquests amino\u00e0cids s\u2019acumulen a l\u2019organisme i poden assolir nivells t\u00f2xics, especialment la leucina, que \u00e9s la principal responsable del dany neurol\u00f2gic associat a la malaltia.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Quins_simptomes_produeix\"><\/span>Quins s\u00edmptomes produeix<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La leucinosi \u00e9s un trastorn greu i potencialment mortal que requereix tractament m\u00e8dic immediat.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Els s\u00edmptomes apareixen pocs dies despr\u00e9s del naixement i solen manifestar-se de manera epis\u00f2dica, empitjorant de forma significativa en situacions d\u2019estr\u00e8s f\u00edsic com infeccions, febre o dejuni prolongat.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Problemes d\u2019alimentaci\u00f3: dificultat per succionar i rebuig de les preses<\/li>\n\n\n\n<li>V\u00f2mits<\/li>\n\n\n\n<li>Alteracions neurol\u00f2giques: letargia, somnol\u00e8ncia extrema, irritabilitat i plor inconsolable<\/li>\n\n\n\n<li>Trastorns motors: rigidesa muscular (espasticitat), flacciditat alternant i moviments anormals<\/li>\n\n\n\n<li><a href=\"https:\/\/www.mgc.es\/ca\/blog\/convulsions-febrils-en-el-nado\/\">Convulsions<\/a> i <a href=\"https:\/\/www.mgc.es\/ca\/blog\/trastorns-respiratoris-obstructius-del-son-en-el-nado\/\">apnees<\/a>, que poden evolucionar a coma i insufici\u00e8ncia respirat\u00f2ria greu<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Fins i tot en les formes m\u00e9s lleus, els episodis de descompensaci\u00f3 metab\u00f2lica poden provocar discapacitat intel\u00b7lectual. En les formes m\u00e9s greus, el dany cerebral pot produir-se en molt poc temps.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Com_es_diagnostica\"><\/span>Com es diagnostica<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La leucinosi es detecta mitjan\u00e7ant la <a href=\"https:\/\/www.mgc.es\/ca\/blog\/prova-del-talo-en-els-nadons\/\">prova del tal\u00f3<\/a>, inclosa dins del programa de cribratge neonatal, que permet identificar de manera preco\u00e7 malalties metab\u00f2liques greus.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Davant d\u2019un resultat sospit\u00f3s, es duen a terme proves complement\u00e0ries per confirmar el diagn\u00f2stic:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Determinaci\u00f3 d\u2019amino\u00e0cids a la sang<\/li>\n\n\n\n<li>An\u00e0lisi d\u2019aminoacid\u00faria mitjan\u00e7ant mostra d\u2019orina<\/li>\n\n\n\n<li>Estudi gen\u00e8tic per identificar la mutaci\u00f3 responsable<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Sense un diagn\u00f2stic i tractament preco\u00e7os, les complicacions poden incloure dany neurol\u00f2gic irreversible, coma i risc vital.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Com_es_tracta_la_leucinosi\"><\/span>Com es tracta la leucinosi<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">El tractament es basa en una dieta estricta i controlada que limita de manera permanent la ingesta de prote\u00efnes naturals riques en leucina, isoleucina i valina. Ha d\u2019iniciar-se de forma immediata despr\u00e9s del diagn\u00f2stic.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">S\u2019utilitzen f\u00f3rmules especials d\u2019amino\u00e0cids sint\u00e8tics lliures dels amino\u00e0cids t\u00f2xics i, en situacions agudes, pot ser necess\u00e0ria la reducci\u00f3 r\u00e0pida dels seus nivells mitjan\u00e7ant di\u00e0lisi o transfusions.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">En alguns pacients es prescriuen suplements d\u2019isoleucina i valina per evitar d\u00e8ficits nutricionals, aix\u00ed com tiamina (vitamina B1) en casos seleccionats per millorar la toler\u00e0ncia metab\u00f2lica.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El seguiment m\u00e8dic \u00e9s de per vida i inclou controls anal\u00edtics freq\u00fcents i supervisi\u00f3 especialitzada. En casos molt greus o de dif\u00edcil control, es pot valorar el trasplantament hep\u00e0tic.<\/p>\n\n\n\n<div style=\"height:100px\" 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><a href=\"https:\/\/medlineplus.gov\/spanish\/ency\/article\/000373.htm\">MedlinePlus: malaltia de l\u2019orina amb olor de xarop d\u2019aur\u00f3<\/a><br><a href=\"https:\/\/www.enfermedades-raras.org\/enfermedades-raras\/patologias\/leucinosis\">FEDER: Leucinosi<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>La leucinosi, tamb\u00e9 coneguda com a malaltia de l\u2019orina amb olor de xarop d\u2019aur\u00f3, \u00e9s una patologia metab\u00f2lica rara que requereix un diagn\u00f2stic preco\u00e7, tractament urgent i un seguiment m\u00e8dic i nutricional estricte al llarg de tota la vida. Amb un control adequat, \u00e9s possible millorar el pron\u00f2stic i la qualitat de vida del pacient. [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":39215,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[15],"tags":[],"class_list":["post-39214","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\/neonato-dormido-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>Viure amb leucinosi: cures, tractament i seguiment m\u00e8dic - MGC M\u00fatua<\/title>\n<meta name=\"description\" content=\"Leucinosi: causes, s\u00edmptomes, diagn\u00f2stic i tractament. 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