{"id":39370,"date":"2026-07-09T18:00:00","date_gmt":"2026-07-09T16:00:00","guid":{"rendered":"https:\/\/www.mgc.es\/?p=39370"},"modified":"2026-06-29T12:04:15","modified_gmt":"2026-06-29T10:04:15","slug":"deficiencies-del-cicle-de-la-urea-i-dels-acids-organics","status":"publish","type":"post","link":"https:\/\/www.mgc.es\/ca\/blog\/deficiencies-del-cicle-de-la-urea-i-dels-acids-organics\/","title":{"rendered":"Defici\u00e8ncies del cicle de la urea i dels \u00e0cids org\u00e0nics"},"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\/deficiencies-del-cicle-de-la-urea-i-dels-acids-organics\/#Que_es_el_cicle_de_la_urea\" >Qu\u00e8 \u00e9s el cicle de la urea?<\/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\/deficiencies-del-cicle-de-la-urea-i-dels-acids-organics\/#Per_que_es_produeixen_anomalies_del_cicle_de_la_urea\" >Per qu\u00e8 es produeixen anomalies del cicle de la urea<\/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\/deficiencies-del-cicle-de-la-urea-i-dels-acids-organics\/#Simptomes_dels_trastorns_del_cicle_de_la_urea\" >S\u00edmptomes dels trastorns del cicle de la urea<\/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\/deficiencies-del-cicle-de-la-urea-i-dels-acids-organics\/#Com_es_diagnostiquen_aquests_trastorns\" >Com es diagnostiquen aquests trastorns<\/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\/deficiencies-del-cicle-de-la-urea-i-dels-acids-organics\/#Tractament_dels_trastorns_del_cicle_de_la_urea\" >Tractament dels trastorns del cicle de la urea<\/a><\/li><\/ul><\/nav><\/div>\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Que_es_el_cicle_de_la_urea\"><\/span>Qu\u00e8 \u00e9s el cicle de la urea?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">El cicle de la urea \u00e9s un proc\u00e9s metab\u00f2lic essencial que t\u00e9 lloc a l\u2019organisme i que permet eliminar subst\u00e0ncies t\u00f2xiques de la sang, especialment l\u2019amon\u00edac.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"880\" height=\"742\" src=\"https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/urea_cycle-880x742.png\" alt=\"Esquema del cicle de la urea\" class=\"wp-image-39367\" srcset=\"https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/urea_cycle-880x742.png 880w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/urea_cycle-440x371.png 440w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/urea_cycle-768x648.png 768w, https:\/\/www.mgc.es\/wp-content\/uploads\/2026\/05\/urea_cycle.png 938w\" sizes=\"auto, (max-width: 880px) 100vw, 880px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Quan ingerim aliments rics en prote\u00efnes, el cos les descompon en amino\u00e0cids, necessaris per al creixement, el transport de nutrients i el funcionament correcte dels \u00f2rgans. Els amino\u00e0cids que no s\u2019utilitzen es transformen en residus rics en nitrogen, que es converteix en amon\u00edac, una subst\u00e0ncia altament t\u00f2xica.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Gr\u00e0cies a determinats enzims produ\u00efts pel fetge, l\u2019amon\u00edac es transforma en urea, un compost molt menys t\u00f2xic. La urea passa a la sang i s\u2019elimina a trav\u00e9s dels ronyons amb l\u2019orina. Aquest proc\u00e9s rep el nom de cicle de la urea i \u00e9s fonamental per a l\u2019equilibri de l\u2019organisme. Quan es produeixen <a href=\"https:\/\/gruposdetrabajo.sefh.es\/redfaster\/GIMUR2014\/16-trastorno-ciclo-urea_GIMUR2014.pdf\">alteracions en aquest cicle<\/a>, poden apar\u00e8ixer malalties rares.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Per_que_es_produeixen_anomalies_del_cicle_de_la_urea\"><\/span>Per qu\u00e8 es produeixen anomalies del cicle de la urea<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Els trastorns del cicle de la urea es deuen a la pres\u00e8ncia d\u2019un gen defectu\u00f3s responsable de la producci\u00f3 dels enzims necessaris per convertir l\u2019amon\u00edac en urea. Quan aquests enzims no funcionen correctament, l\u2019amon\u00edac s\u2019acumula a la sang.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Hi ha diferents tipus de trastorns del cicle de la urea, que reben el nom segons l\u2019enzim o la prote\u00efna transportadora afectada. Actualment se n\u2019han identificat vuit.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El m\u00e9s freq\u00fcent \u00e9s el <a href=\"https:\/\/rarediseases.info.nih.gov\/espanol\/11995\/deficit-de-ornitina-transcarbamilasa\">d\u00e8ficit d\u2019ornitina transcarbamilasa<\/a> (OTC). Altres tipus s\u00f3n:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>D\u00e8ficit de carbamoil fosfat sintetasa I (CPS1)<\/li>\n\n\n\n<li>D\u00e8ficit d\u2019argininosuccinat sintetasa (citrulin\u00e8mia)<\/li>\n\n\n\n<li>D\u00e8ficit d\u2019argininosuccinat liasa (acid\u00faria argininosucc\u00ednica)<\/li>\n\n\n\n<li>D\u00e8ficit d\u2019arginasa (arginin\u00e8mia)<\/li>\n\n\n\n<li>D\u00e8ficit de N-acetilglutamat sintetasa (NAGS)<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">En conjunt, aquests trastorns afecten aproximadament 1 de cada 30.000 nounats. La gravetat dep\u00e8n de l\u2019enzim afectat i del punt del cicle on es produeix el bloqueig.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El d\u00e8ficit d\u2019OTC \u00e9s hereditari i est\u00e0 lligat al cromosoma X, fet pel qual afecta amb m\u00e9s freq\u00fc\u00e8ncia els nens. Les nenes poden ser portadores i presentar s\u00edmptomes m\u00e9s lleus o tardans.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La resta d\u2019alteracions del cicle de la urea afecten per igual ambd\u00f3s sexes i formen part dels <a href=\"https:\/\/medlineplus.gov\/spanish\/ency\/article\/002438.htm\">errors cong\u00e8nits del metabolisme<\/a> (ECM).<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Simptomes_dels_trastorns_del_cicle_de_la_urea\"><\/span>S\u00edmptomes dels trastorns del cicle de la urea<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Els nounats amb les formes m\u00e9s greus poden semblar sans al naixement, per\u00f2 durant els primers dies de vida poden desenvolupar:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>P\u00e8rdua progressiva de la gana<\/li>\n\n\n\n<li>Rebuig a l\u2019alimentaci\u00f3<\/li>\n\n\n\n<li>V\u00f2mits<\/li>\n\n\n\n<li>Letargia progressiva<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">A mesura que augmenten els nivells d\u2019amon\u00edac, poden apar\u00e8ixer irritabilitat, plor inconsolable, convulsions, respiraci\u00f3 r\u00e0pida i anormal, temperatura baixa i, en casos greus, coma.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Les formes m\u00e9s lleus solen apar\u00e8ixer mesos o anys despr\u00e9s, amb s\u00edmptomes com:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>V\u00f2mits recurrents<\/li>\n\n\n\n<li>Mals de cap<\/li>\n\n\n\n<li>Confusi\u00f3<\/li>\n\n\n\n<li>Problemes de comportament i aprenentatge<\/li>\n\n\n\n<li>Canvis sobtats d\u2019humor<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Altres s\u00edmptomes freq\u00fcents s\u00f3n cansament extrem, retard en el creixement, n\u00e0usees, dolor abdominal, hipotonia muscular i alteracions del nivell de consci\u00e8ncia.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">En les formes lleus \u00e9s habitual el rebuig espontani als aliments rics en prote\u00efnes, com la carn, el peix o els lactis.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Com_es_diagnostiquen_aquests_trastorns\"><\/span>Com es diagnostiquen aquests trastorns<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">A Catalunya i a la resta de l\u2019Estat es realitza el <a href=\"https:\/\/www.mgc.es\/blog\/ca\/prova-del-talo-en-nadons-recent-nascuts\/\">cribratge neonatal o prova del tal\u00f3<\/a>, que permet detectar alguns trastorns del cicle de la urea.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El diagn\u00f2stic es basa en la detecci\u00f3 de valors alterats en sang o orina de:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Amino\u00e0cids<\/li>\n\n\n\n<li>\u00c0cid or\u00f2tic<\/li>\n\n\n\n<li>Amon\u00edac<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Les proves m\u00e9s habituals inclouen:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/medlineplus.gov\/spanish\/pruebas-de-laboratorio\/prueba-de-gasometria-arterial\/\">Gasometria arterial<\/a><\/li>\n\n\n\n<li>Determinaci\u00f3 d\u2019amon\u00edac en sang<\/li>\n\n\n\n<li>Gluc\u00e8mia<\/li>\n\n\n\n<li>Perfil d\u2019amino\u00e0cids<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">En alguns casos es poden sol\u00b7licitar proves gen\u00e8tiques, una bi\u00f2psia hep\u00e0tica o una <a href=\"https:\/\/www.mgc.es\/blog\/ca\/que-es-el-radiodiagnostic\/\">resson\u00e0ncia magn\u00e8tica<\/a>.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Tractament_dels_trastorns_del_cicle_de_la_urea\"><\/span>Tractament dels trastorns del cicle de la urea<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">El tractament s\u2019ha d\u2019individualitzar i ser\u00e0 l\u2019especialista qui determini les mesures m\u00e9s adequades segons el tipus de d\u00e8ficit i els nivells d\u2019amon\u00edac.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La restricci\u00f3 controlada de prote\u00efnes \u00e9s una de les bases del tractament, ja que redueix la producci\u00f3 de residus nitrogenats.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u00c9s essencial ajustar la quantitat de prote\u00efnes tolerada per cada pacient per garantir un creixement adequat sense descompensacions.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Existeixen f\u00f3rmules especials de llet baixes en prote\u00efnes per a nadons i infants amb aquests trastorns.<\/p>\n\n\n\n<div style=\"height:50px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Bibliografia<\/strong><br>\n<a href=\"https:\/\/www.elsevier.es\/es-revista-medicina-familia-semergen-40-articulo-trastornos-del-ciclo-urea-atencion-S1138359314000598\">Elsevier: Trastorns del cicle de la urea<\/a><br>\n<a href=\"https:\/\/familiasga.com\/wp-content\/uploads\/2019\/11\/Protocolo-de-diagn%C3%B3stico-y-tratamiento-UCD-AECOM.pdf\">Familiasga.com: Protocol de diagn\u00f2stic i tractament<\/a>\n<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Qu\u00e8 \u00e9s el cicle de la urea? El cicle de la urea \u00e9s un proc\u00e9s metab\u00f2lic essencial que t\u00e9 lloc a l\u2019organisme i que permet eliminar subst\u00e0ncies t\u00f2xiques de la sang, especialment l\u2019amon\u00edac. Quan ingerim aliments rics en prote\u00efnes, el cos les descompon en amino\u00e0cids, necessaris per al creixement, el transport de nutrients i el [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":39369,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[15],"tags":[],"class_list":["post-39370","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\/urea_cycle.png","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>Defici\u00e8ncies del cicle de la urea i dels \u00e0cids org\u00e0nics - MGC M\u00fatua<\/title>\n<meta name=\"description\" content=\"Trastorns del cicle de la urea: causes, s\u00edmptomes, diagn\u00f2stic i tractament d\u2019aquesta malaltia metab\u00f2lica rara en infants i adults.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.mgc.es\/?p=39366\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Defici\u00e8ncies del cicle de la urea i dels \u00e0cids org\u00e0nics - 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