{"id":18752,"date":"2022-03-21T15:12:25","date_gmt":"2022-03-21T14:12:25","guid":{"rendered":"https:\/\/www.idisantiago.es\/?post_type=project&#038;p=18752"},"modified":"2026-08-26T14:20:05","modified_gmt":"2026-08-26T12:20:05","slug":"c012-metabolopatias","status":"publish","type":"project","link":"https:\/\/www.idisantiago.es\/gl\/grupo-de-investigacion\/c012-metabolopatias\/","title":{"rendered":"C012 &#8211; Metabolopat\u00edas"},"content":{"rendered":"<p>[et_pb_section fb_built=&#8221;1&#8243; _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; custom_padding=&#8221;0px||||false|false&#8221; da_disable_devices=&#8221;off|off|off&#8221; global_colors_info=&#8221;{}&#8221; da_is_popup=&#8221;off&#8221; da_exit_intent=&#8221;off&#8221; da_has_close=&#8221;on&#8221; da_alt_close=&#8221;off&#8221; da_dark_close=&#8221;off&#8221; da_not_modal=&#8221;on&#8221; da_is_singular=&#8221;off&#8221; da_with_loader=&#8221;off&#8221; da_has_shadow=&#8221;on&#8221;][et_pb_row _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; width=&#8221;100%&#8221; custom_padding=&#8221;0px||||false|false&#8221; locked=&#8221;off&#8221; collapsed=&#8221;on&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text admin_label=&#8221;\u00c1rea&#8221; _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<p>\u00c1REA: <a href=\"https:\/\/www.idisantiago.es\/gl\/areas-de-investigacion\/a003-endocrinologia\/\">ENDOCRINOLOX\u00cdA<\/a><\/p>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=&#8221;2_3,1_3&#8243; _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; width=&#8221;100%&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;2_3&#8243; _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_image src=&#8221;https:\/\/www.idisantiago.es\/wp-content\/uploads\/2022\/01\/peq_1.jpg&#8221; title_text=&#8221;peq_1&#8243; _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_image][et_pb_toggle title=&#8221;Obxectivos e li\u00f1as de investigaci\u00f3n&#8221; admin_label=&#8221;Obxectivos e li\u00f1as de investigaci\u00f3n&#8221; _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; body_font=&#8221;|300|||||||&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h3>Obxectivos<\/h3>\n<p>O grupo foi constitu\u00eddo en 2005 co reto de avanzar no co\u00f1ecemento das enfermidades metab\u00f3licas conx\u00e9nitas (EMC). Conta cun equipo multidisciplinar integrado por pediatras, bioqu\u00edmicos, xenetistas, farmac\u00e9uticos e t\u00e9cnicos de laboratorio, iso permite establecer estudos con diferentes aspectos do co\u00f1ecemento que facilitan a s\u00faa traslaci\u00f3n \u00e1 cl\u00ednica e \u00e1 innovaci\u00f3n.<\/p>\n<p>O obxectivo \u00e9 establecer un modelo relacional para:<\/p>\n<ul>\n<li>Axudar a co\u00f1ecer a historia natural das EMC, que redunde nun maior co\u00f1ecemento dos mecanismos causais e un m\u00e1is r\u00e1pido diagn\u00f3stico e tratamento.<\/li>\n<li>Chegar a diagn\u00f3sticos m\u00e1is certeiros e r\u00e1pidos, mediante no cribado neonatal e selectivo con novas t\u00e9cnicas anal\u00edticas de medici\u00f3n e o emprego de \u00f3micas para o desenvolvemento de novos biomarcadores, que permitan a su vez un mellor control evolutivo.<\/li>\n<li>Establecer li\u00f1as de novas terapias, en particular nas enfermidades lisosomais.<\/li>\n<\/ul>\n<p>Estos obxectivos perm\u00edtenlle consolidar unha posici\u00f3n de referencia mundial na investigaci\u00f3n das EMC.<\/p>\n<h3>Li\u00f1as de investigaci\u00f3n<\/h3>\n<p>1. CRIBADO NEONATAL E SELECTIVO BIOQU\u00cdMICO. Desenvolvemento de m\u00e9todos anal\u00edticos para medir novos biomarcadores por MS\/MS-LC. Desenvolvemento de proxectos enzim\u00e1ticos para o cribado selectivo de enfermidades lisosomais.<\/p>\n<p>2. IMPLEMENTACI\u00d3N DE -\u00d3MICAS \u00d3 DIAGN\u00d3STICO E SEGUIMENTO CL\u00cdNICO. Incorporando exoma e novas -\u00f3micas, proteo-transcripto-metabol\u00f3mica, para identificar biomarcadores en patolox\u00edas metab\u00f3licas raras.<\/p>\n<p>3. NUTRICI\u00d3N<br \/>-Estudo de oxilipinas e de graxa parda valorando o consumo metab\u00f3lico en patolox\u00edas metab\u00f3licas.<br \/>-Estudo de composici\u00f3n de nutrintes e contaminantes da leite, cuantificando proteoma e miRNAs exosomais da leite materna.<\/p>\n<p>4. APLICACI\u00d3N DE NUOVAS TERAPIAS NAS ENFERMIDADES RARAS.<br \/>-Inmovilizaci\u00f3n de enzimas empregadas en terapia enzim\u00e1tica de reemprazo mediante nanopart\u00edculas de desenvolvemento propio (con Dr. Otero, Dr. Tomatsu).<br \/>-Desenvolvemento de medicaci\u00f3ns en impresi\u00f3n 3D que impacten na adherencia \u00f3 tratamento (con Dr. Goyanes-University College London).<\/p>\n<p>[\/et_pb_toggle][et_pb_toggle title=&#8221;Equipo investigador&#8221; admin_label=&#8221;Equipo investigador&#8221; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; body_font=&#8221;|300|||||||&#8221; hover_enabled=&#8221;0&#8243; global_colors_info=&#8221;{}&#8221; sticky_enabled=&#8221;0&#8243;]<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<table style=\"width: 100%; border-collapse: collapse; border-style: hidden; height: 166px;\" border=\"0\">\n<tbody>\n<tr style=\"height: 166px;\">\n<td style=\"width: 50%; height: 166px;\"><strong>L\u00edder<\/strong><br \/>Couce Pico, Mar\u00eda de la Luz<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Membros<\/strong><br \/>\u00c1lvarez Gonz\u00e1lez, Jos\u00e9 V\u00edctor<br \/>Caiola Candeias Pontes Rodrigues, Daniel<br \/>Carvalho de Azevedo Rocha, Hugo Daniel<br \/>Chans Gerpe, Roi<br \/>Cocho de Juan, Jos\u00e9 \u00c1ngel<br \/>Col\u00f3n Mejeras, Crist\u00f3bal<br \/>Cordero Barreal, Alfonso<br \/>Couce Pico, Mar\u00eda de la Luz<br \/>Crujeiras Barral, Pablo<br \/>de Castro L\u00f3pez, Mar\u00eda Jos\u00e9<br \/>Dom\u00ednguez Robles, Iria<br \/>Est\u00e9vez Barcia, Rebeca<br \/>Fern\u00e1ndez P\u00e9rez, Cristina<br \/>Figueiras Fari\u00f1a, Samantha Mar\u00eda<br \/>Gallego Garc\u00eda, Laura<br \/>Grandal Gonz\u00e1lez, Daniel<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<\/td>\n<td style=\"width: 50%; height: 166px;\">Lis L\u00f3pez, Lluis Miquel<br \/>L\u00f3pez L\u00f3pez, Catalina Antonia<br \/>L\u00f3pez Rourich, Mercedes<br \/>L\u00f3pez Su\u00e1rez, Olalla<br \/>L\u00f3pez Valverde, Laura<br \/>Mart\u00edn L\u00f3pez-Pardo, Beatriz Mar\u00eda<br \/>Monteagudo Vilavedra, Ein\u00e9s<br \/>P\u00e9rez Mu\u00f1uzuri, Alejandro<br \/>Pic\u00e1ns Leis, Rosaura<br \/>Rodi\u00f1o Janeiro, Bruno Kotska<br \/>S\u00e1nchez Pintos, Paula<br \/>Serres G\u00f3mez, Mariana<br \/>Silva Rodr\u00edguez, Paula<br \/>Urisarri Ru\u00edz de Cort\u00e1zar, Adela<br \/>V\u00e1zquez Mosquera, Mar\u00eda Eugenia<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Persoal Colaborador Externo<\/strong><br \/>Ald\u00e1miz Echevarr\u00eda Arazuara, Luis<\/p>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>[\/et_pb_toggle][et_pb_toggle title=&#8221;Proxectos&#8221; admin_label=&#8221;Proyectos (cambiar s\u00f3 codigo IDIS)&#8221; _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; body_font=&#8221;|300|||||||&#8221; locked=&#8221;on&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n\n<p>[\/et_pb_toggle][et_pb_toggle title=&#8221;Publicaci\u00f3ns&#8221; admin_label=&#8221;Publicaciones&#8221; _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; body_font=&#8221;|300|||||||&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<ul>\n<li>Spiekerkoetter U, Couce ML, Das AM, de Laet C, Dionisi-Vici C, Lund AM, Schiff M, Spada M, Sparve E, Szamosi J, Vara R, Rudebeck M. <strong>Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study<\/strong>. <em>Lancet Diabetes Endocrinol<\/em> 2021;9:427-435. <span style=\"color: #808000;\"><strong>doi<span class=\"identifier doi\"><span class=\"id-label\">: <\/span><a class=\"id-link\" style=\"color: #808000;\" href=\"https:\/\/doi.org\/10.1016\/s2213-8587(21)00092-9\" target=\"_blank\" rel=\"noopener\" data-ga-category=\"full_text\" data-ga-action=\"DOI\">10.1016\/S2213-8587(21)00092-9<\/a><\/span><\/strong><\/span><\/li>\n<li>Barbosa-Gouveia S, V\u00e1zquez-Mosquera ME, Gonzalez-Vioque E, Hermida-Ameijeiras \u00c1, Valverde LL, Armstrong-Moron J, Fons-Estupi\u00f1a MDC, Wintjes LT, Kappen A, Rodenburg RJ, Couce ML. <strong>Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome<\/strong>. <em>Int J Mol Sci<\/em> 2021;22:13484. <span style=\"color: #808000;\"><strong>doi<span class=\"identifier doi\"><span class=\"id-label\">: <\/span><a class=\"id-link\" style=\"color: #808000;\" href=\"https:\/\/doi.org\/10.3390\/ijms222413484\" target=\"_blank\" rel=\"noopener\" data-ga-category=\"full_text\" data-ga-action=\"DOI\">10.3390\/ijms222413484<\/a><\/span><\/strong><\/span><\/li>\n<li>Urisarri A, Gonz\u00e1lez-Garc\u00eda I, Est\u00e9vez-Salguero A, Pata MP, Milbank E, L\u00f3pez N, Mandi\u00e1 N, Grijota-Martinez C, Salgado CA, Nogueiras R, Di\u00e9guez C, Villarroya F, Fern\u00e1ndez-Real JM, Couce ML, L\u00f3pez M. <strong>BMP8 and activated brown adipose tissue in human newborns<\/strong>. <em>Nat Commun<\/em> 2021;12(1):5274. <span style=\"color: #808000;\"><strong>doi<span class=\"identifier doi\"><span class=\"id-label\">: <\/span><a class=\"id-link\" style=\"color: #808000;\" href=\"https:\/\/doi.org\/10.1038\/s41467-021-25456-z\" target=\"_blank\" rel=\"noopener\" data-ga-category=\"full_text\" data-ga-action=\"DOI\">10.1038\/s41467-021-25456-z<\/a><\/span><\/strong><\/span><\/li>\n<li>de Castro MJ, S\u00e1nchez-Pintos P, Abdelaziz-Salem N, Leis R, Couce ML. E<strong>valuation of Body Composition, Physical Activity, and Food Intake in Patients with Inborn Errors of Intermediary Metabolism<\/strong>. <em>Nutrients<\/em> 2021; 13: 2111. <span style=\"color: #808000;\"><strong>doi<span class=\"identifier doi\"><span class=\"id-label\">: <\/span><a class=\"id-link\" style=\"color: #808000;\" href=\"https:\/\/doi.org\/10.3390\/nu13062111\" target=\"_blank\" rel=\"noopener\" data-ga-category=\"full_text\" data-ga-action=\"DOI\">10.3390\/nu13062111<\/a><\/span><\/strong><\/span><\/li>\n<li>\u00c1lvarez JV, Bravo SB, Chantada\u2010V\u00e1zquez MP, Barbosa\u2010Gouveia S,Col\u00f3n C, L\u00f3pez\u2010Suarez O, Tomatsu S, Otero\u2010Espinar FJ, Couce ML. <strong>Plasma Proteomic Analysis in Morquio A Disease<\/strong>.<em> Int J Mol Sci<\/em> 2021; 22: 6165. <span style=\"color: #808000;\"><strong>doi<span class=\"identifier doi\"><span class=\"id-label\">: <\/span><a class=\"id-link\" style=\"color: #808000;\" href=\"https:\/\/doi.org\/10.3390\/ijms22116165\" target=\"_blank\" rel=\"noopener\" data-ga-category=\"full_text\" data-ga-action=\"DOI\">10.3390\/ijms22116165<\/a><\/span><\/strong><\/span><\/li>\n<li>Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, M\u00f6singer D, Couce ML, Empain A, Ficicioglu C, Palacios NJ, De Los Santos De Pelegrin MM, Rivera IA, Scholl-B\u00fcrgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT. <strong>Galactokinase deficiency: lessons from the GalNet registry<\/strong>. <em>Genet Med<\/em> 2021;23:202-210.<span style=\"color: #808000;\"><strong> doi<span class=\"identifier doi\"><span class=\"id-label\">: <\/span><a class=\"id-link\" style=\"color: #808000;\" href=\"https:\/\/doi.org\/10.1038\/s41436-020-00942-9\" target=\"_blank\" rel=\"noopener\" data-ga-category=\"full_text\" data-ga-action=\"DOI\">10.1038\/s41436-020-00942-9<\/a><\/span><\/strong><\/span><\/li>\n<li>Castilla Rodr\u00edguez I, Prieto Gonz\u00e1lez D; Gonz\u00e1lez Gonz\u00e1lez EJ, Couce ML. <strong>Automated generation of decision-tree models for the economic assessment of interventions for rare diseases using the RaDiOS ontology<\/strong>. <em>J Biomed Inform<\/em>. 2020; 110:103563.<span style=\"color: #808000;\"><strong> doi<span class=\"identifier doi\"><span class=\"id-label\">: <\/span><a class=\"id-link\" style=\"color: #808000;\" href=\"https:\/\/doi.org\/10.1016\/j.jbi.2020.103563\" target=\"_blank\" rel=\"noopener\" data-ga-category=\"full_text\" data-ga-action=\"DOI\">10.1016\/j.jbi.2020.103563<\/a><\/span><\/strong><\/span><\/li>\n<li>Ald\u00e1miz-Echevarria L, De las Heras J, Couce ML, Alcalde C, Vitoria I, Bueno M, Blasco J, Garc\u00eda MC, Suarez R, Andrade F, Villate O. <strong>Non-alcoholic fatty liver in hereditary fructose intolerance<\/strong>. <em>Clin Nutr<\/em> 2020 Feb;39(2):455-459. <strong><span style=\"color: #808000;\">doi<span class=\"identifier doi\"><span class=\"id-label\">: <\/span><a class=\"id-link\" style=\"color: #808000;\" href=\"https:\/\/doi.org\/10.1016\/j.clnu.2019.02.019\" target=\"_blank\" rel=\"noopener\" data-ga-category=\"full_text\" data-ga-action=\"DOI\">10.1016\/j.clnu.2019.02.019<\/a><\/span><\/span><\/strong><\/li>\n<\/ul>\n<p>[\/et_pb_toggle][et_pb_toggle title=&#8221;Web do grupo&#8221; disabled_on=&#8221;on|on|on&#8221; admin_label=&#8221;Web del grupo&#8221; _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; body_font=&#8221;|300|||||||&#8221; disabled=&#8221;on&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<p>https:\/\/<\/p>\n<p>[\/et_pb_toggle][\/et_pb_column][et_pb_column type=&#8221;1_3&#8243; _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text admin_label=&#8221;Investigador\/a l\u00edder (s\u00f3 cambiar invesigador ou investigadora)&#8221; _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; 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class=\"sp-team-pro-item sptp-col-lg-1 sptp-col-md-1 sptp-col-sm-1 sptp-col-xs-1\" data-member=\"14331\"> <div class=\"sptp-member border-bg-around-member sptp-bottom-content sptp-square\"> <a class=\"sptp-member-avatar \" href=https:\/\/www.idisantiago.es\/gl\/team\/ma-luz-couce-pico\/ target=_blank > <div class=\"sptp-member-avatar-img-area\" data-id=\"14331\"> <div class=\"sptp-member-avatar-img sptp-square sptp-icon-on-image \"> <div class=\"sptp-overflow-h\"> <div class=\"sptp-icon text-center\"> <i class=\"fa fa-plus\"><\/i> <\/div> <img loading=\"lazy\" decoding=\"async\" class=\"sptp_default_img \" src=\"https:\/\/www.idisantiago.es\/wp-content\/uploads\/2021\/11\/COUCE-PICO-Ma-LUZ-2-320x320.jpg\" alt=\"M\u00aa Luz Couce Pico\" width=\"320\" height=\"320\"> <\/div> <\/div> <\/div> <\/a> <div class=\"sptp-member-name \"> <h2 class=\"sptp-name\">M\u00aa Luz Couce Pico<\/h2><\/div> <div class=\"sptp-member-email\"> <i class=\"fa fa-envelope\"><\/i> <a href=\"#0\" class=\"\"> <span>maria.luz.couce.pico@sergas.es<\/span> <\/a> <\/div> <div class=\"sptp-member-website\"> <i class=\"fa fa-globe\"><\/i> <a href=\"https:\/\/orcid.org\/0000-0003-4861-9905\" class=\"\" target=\"_blank\"> <span>https:\/\/orcid.org\/0000-0003-4861-9905<\/span> <\/a> <\/div> <div class=\"sptp-read-more-button\"> <a class=\"sptp-member-read-more-button\" href=\"https:\/\/www.idisantiago.es\/gl\/team\/ma-luz-couce-pico\/\" target=\"_blank\" > + INFO <\/a> <\/div> <\/div> <\/div> <\/div> <\/div> <\/div> <\/div> \n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u00c1REA: ENDOCRINOLOX\u00cdAObxectivos O grupo foi constitu\u00eddo en 2005 co reto de avanzar no co\u00f1ecemento das enfermidades metab\u00f3licas conx\u00e9nitas (EMC). Conta cun equipo multidisciplinar integrado por pediatras, bioqu\u00edmicos, xenetistas, farmac\u00e9uticos e [&hellip;]<\/p>\n","protected":false},"author":15,"featured_media":18760,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","inline_featured_image":false,"footnotes":""},"project_category":[505],"project_tag":[],"class_list":["post-18752","project","type-project","status-publish","has-post-thumbnail","hentry","project_category-endocrinologia-gl"],"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/www.idisantiago.es\/gl\/wp-json\/wp\/v2\/project\/18752","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.idisantiago.es\/gl\/wp-json\/wp\/v2\/project"}],"about":[{"href":"https:\/\/www.idisantiago.es\/gl\/wp-json\/wp\/v2\/types\/project"}],"author":[{"embeddable":true,"href":"https:\/\/www.idisantiago.es\/gl\/wp-json\/wp\/v2\/users\/15"}],"replies":[{"embeddable":true,"href":"https:\/\/www.idisantiago.es\/gl\/wp-json\/wp\/v2\/comments?post=18752"}],"version-history":[{"count":0,"href":"https:\/\/www.idisantiago.es\/gl\/wp-json\/wp\/v2\/project\/18752\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.idisantiago.es\/gl\/wp-json\/wp\/v2\/media\/18760"}],"wp:attachment":[{"href":"https:\/\/www.idisantiago.es\/gl\/wp-json\/wp\/v2\/media?parent=18752"}],"wp:term":[{"taxonomy":"project_category","embeddable":true,"href":"https:\/\/www.idisantiago.es\/gl\/wp-json\/wp\/v2\/project_category?post=18752"},{"taxonomy":"project_tag","embeddable":true,"href":"https:\/\/www.idisantiago.es\/gl\/wp-json\/wp\/v2\/project_tag?post=18752"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}