{"id":76,"date":"2023-05-10T15:55:16","date_gmt":"2023-05-10T14:55:16","guid":{"rendered":"https:\/\/www.chu-poitiers.fr\/specialites\/service-de-genetique\/?page_id=76"},"modified":"2023-07-17T10:21:56","modified_gmt":"2023-07-17T09:21:56","slug":"centre-de-competence-des-maladies-hereditaires-du-metabolisme","status":"publish","type":"page","link":"https:\/\/www.chu-poitiers.fr\/specialites\/service-de-genetique\/centre-de-competence-des-maladies-hereditaires-du-metabolisme\/","title":{"rendered":"Centre de comp\u00e9tence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme"},"content":{"rendered":"<div class=\"wpb-content-wrapper\">[vc_row][vc_column][vc_column_text]\n<p style=\"text-align: center;\">Le centre de comp\u00e9tence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme diagnostic et prend en charge les patients, enfants et adultes, pr\u00e9sentant des maladies rares h\u00e9r\u00e9ditaires du M\u00e9tabolisme. Le centre collabore ainsi avec diff\u00e9rents services tels que la P\u00e9diatrie, la Neurologie, la MPR, la M\u00e9decine interne, la Cardiologie, la Pneumologie, la N\u00e9phrologie, l&rsquo;Ophtalmologie, l&rsquo;ORL, \u2026 Son centre de r\u00e9f\u00e9rence de rattachement est coordonn\u00e9 par le Pr Brigitte CHABROL au CHU de Marseille. Il travaille en \u00e9troite collaboration avec le centre de r\u00e9f\u00e9rence constitutif du CHU de Tours coordonn\u00e9 par le Pr LABARTHE. Le centre d\u00e9pend de la fili\u00e8re maladies rares \u00ab G2M \u00bb. Les donn\u00e9es d\u2019activit\u00e9 du centre sont recueillis dans la BNDMR (Banque Nationale Donn\u00e9es Maladies rares).<\/p>\n<p style=\"text-align: center;\">Il prend en charge au plus pr\u00e8s du domicile des patients issus du d\u00e9pistage n\u00e9onatal (Ph\u00e9nylc\u00e9tonurie, Homocystinurie, Leucinose, Acidurie Glutarique de type 1, Acidurie Isoval\u00e9rique, D\u00e9ficit en LCHAD, MCAD et en captation de la carnitine). Le centre re\u00e7oit les patients au sein du service pour des consultations. Il a pour but de mettre fin \u00e0 l\u2019errance diagnostique en participant au d\u00e9veloppement des nouvelles technologies de diagnostic, en collaborant avec d\u2019autres \u00e9quipes et en participant \u00e0 des projets de recherche.<\/p>\n<p style=\"text-align: center;\">Le centre a d\u00e9but\u00e9 en 2022, \u00e0 la fois en distanciel et en pr\u00e9sentiel, des ateliers di\u00e9t\u00e9tiques avec nos patients que l\u2019on suit pour une ph\u00e9nylc\u00e9tonurie. Le centre pr\u00e9sente r\u00e9guli\u00e8rement des cas cliniques au sein de notre r\u00e9union pluridisciplinaire de maladie h\u00e9r\u00e9ditaire du m\u00e9tabolisme du Grand Ouest (Brest, Rennes, Nantes, Angers, Tours, Poitiers, Limoges, Bordeaux, Toulouse, Montpellier).<\/p>\n<p style=\"text-align: center;\">Le centre de comp\u00e9tence s&rsquo;efforce de suivre les diff\u00e9rentes recommandations et les r\u00e8gles de bonnes pratiques et d\u2019\u00e9thique concernant la prise en charge diagnostique, le suivi et la coordination du parcours de soins.<\/p>\n<p style=\"text-align: center;\">Il r\u00e9pond au maximum aux sollicitations des associations de patients, pour participer et \u00e9changer lors de s\u00e9minaires, de r\u00e9unions ou d\u2019appels \u00e0 projet. Il met en lien les patients r\u00e9cemment diagnostiqu\u00e9s en les orientant vers les associations appropri\u00e9es.<\/p>\n[\/vc_column_text][\/vc_column][\/vc_row][vc_row][vc_column width=\u00a0\u00bb1\/3&Prime;][vc_icon icon_fontawesome=\u00a0\u00bbfa fa-envelope-o\u00a0\u00bb color=\u00a0\u00bbblack\u00a0\u00bb align=\u00a0\u00bbcenter\u00a0\u00bb css=\u00a0\u00bb.vc_custom_1686926980346{margin-bottom: 5px !important;border-bottom-width: 0px !important;padding-bottom: 0px !important;}\u00a0\u00bb][vc_column_text]\n<p style=\"text-align: center;\"><strong><a href=\"mailto:sec.genetique@chu-poitiers.fr\">sec.genetique@chu-poitiers.fr<\/a><\/strong><\/p>\n[\/vc_column_text][vc_column_text]\n<p style=\"text-align: center;\"><em>Lors de votre premi\u00e8re prise de contact par mail, un lien de confirmation d\u2019envoi vous sera transmis par retour de mail<\/em><\/p>\n[\/vc_column_text][\/vc_column][vc_column width=\u00a0\u00bb1\/3&Prime;][vc_icon icon_fontawesome=\u00a0\u00bbfa fa-phone\u00a0\u00bb color=\u00a0\u00bbblack\u00a0\u00bb align=\u00a0\u00bbcenter\u00a0\u00bb css=\u00a0\u00bb.vc_custom_1686926988321{margin-bottom: 5px !important;border-bottom-width: 0px !important;padding-bottom: 0px !important;}\u00a0\u00bb][vc_column_text]\n<p style=\"text-align: center;\"><strong>05.49.44.39.22<\/strong><\/p>\n[\/vc_column_text][\/vc_column][vc_column width=\u00a0\u00bb1\/3&Prime;][vc_icon icon_fontawesome=\u00a0\u00bbfa fa-map-marker\u00a0\u00bb color=\u00a0\u00bbblack\u00a0\u00bb align=\u00a0\u00bbcenter\u00a0\u00bb css=\u00a0\u00bb.vc_custom_1686926996745{margin-bottom: 5px !important;border-bottom-width: 0px !important;padding-bottom: 0px !important;}\u00a0\u00bb][vc_column_text]\n<p style=\"text-align: center;\">Le centre de comp\u00e9tence est situ\u00e9 au sein du service de g\u00e9n\u00e9tique \u00e0 l\u2019<strong>\u00e9tage -2 couloir B de la Tour Jean BERNARD<\/strong> du CHU de Poitiers (site Mil\u00e9trie).<\/p>\n[\/vc_column_text][\/vc_column][\/vc_row][vc_row][vc_column][vc_tta_accordion active_section=\u00a0\u00bb13&Prime; no_fill=\u00a0\u00bbtrue\u00a0\u00bb collapsible_all=\u00a0\u00bbtrue\u00a0\u00bb][vc_tta_section title=\u00a0\u00bbPathologies prises en charge\u00a0\u00bb tab_id=\u00a0\u00bb1683728564469-44d3e334-2bbd\u00a0\u00bb][vc_column_text]\n<ul>\n<li>Troubles du m\u00e9tabolisme du cycle de l&rsquo;ur\u00e9e et de la d\u00e9toxification de l&rsquo;ammoniac (Citrullin\u00e9mie type I, etc \u2026)<\/li>\n<li>Troubles du m\u00e9tabolisme des acides amin\u00e9s et autres acides organiques (Ph\u00e9nylc\u00e9tonurie, Alcaptonurie etc \u2026)<\/li>\n<li>Maladie de stockage du glycog\u00e8ne (Glycog\u00e9nose de type I, III, V (McArdle), etc \u2026)<\/li>\n<li>Anomalies cong\u00e9nitale de la glycosylation (Syndrome CDG, d\u00e9glycosylation, etc \u2026)<\/li>\n<li>Maladies lysosomales (Xanthomatose c\u00e9r\u00e9brotendineuse, Maladie de Niemann-Pick de type C, etc \u2026)<\/li>\n<li>Maladies p\u00e9roxysomales (Adr\u00e9noleucodystrophie li\u00e9e \u00e0 l\u2019X, Refsum enfant et Adulte, etc \u2026)<\/li>\n<li>Troubles du m\u00e9tabolisme des hydrates de carbone<\/li>\n<li>Troubles du m\u00e9tabolisme des lipides<\/li>\n<li>Troubles du m\u00e9tabolisme des purines ou pyrimidines<\/li>\n<li>Troubles du m\u00e9tabolisme \u00e9nerg\u00e9tique (D\u00e9ficit de la b\u00e9ta-oxydation<\/li>\n<li>Troubles du m\u00e9tabolisme et du transport des amines biog\u00e8nes<\/li>\n<li>Anomalies de transport et d&rsquo;absorption des m\u00e9tabolites<\/li>\n<li>Troubles du m\u00e9tabolisme de la porphyrine et de l&rsquo;h\u00e8me<\/li>\n<li>Cytopathies mitochondriales (d\u00e9ficit en PDH, d\u00e9ficit en TMEM70, NOHL, Kerns-Sayre, etc \u2026)<\/li>\n<li>Autres : Malabsorption du glucose-galactose, Homocystinurie classique, Maladie de Wilson, d\u00e9ficit en cr\u00e9atine.<\/li>\n<\/ul>\n[\/vc_column_text][\/vc_tta_section][vc_tta_section title=\u00a0\u00bbM\u00e9decin coordonateur\u00a0\u00bb tab_id=\u00a0\u00bb1683728564491-a392fde6-705d\u00a0\u00bb][vc_column_text]Dr Gwena\u00ebl LE GUYADER[\/vc_column_text][\/vc_tta_section][vc_tta_section title=\u00a0\u00bbEquipe du centre\u00a0\u00bb tab_id=\u00a0\u00bb1683728653065-fbd42997-dc43&Prime;][vc_column_text]L&rsquo;\u00e9quipe du centre est constitu\u00e9e d&rsquo;un m\u00e9decin, d\u2019un interne, d\u2019une psychologue clinicienne, d\u2019une neuropsychologue, et de deux conseill\u00e8res en g\u00e9n\u00e9tique.<\/p>\n<p>Elle travaille en \u00e9troite collaboration avec ses coll\u00e8gues du laboratoire d\u2019analyses g\u00e9n\u00e9tiques du CHU.[\/vc_column_text][\/vc_tta_section][vc_tta_section title=\u00a0\u00bbLien utile\u00a0\u00bb tab_id=\u00a0\u00bb1683728725847-72e2aba7-9e98&Prime;][vc_btn title=\u00a0\u00bbFili\u00e8re AnDDI-Rares\u00a0\u00bb style=\u00a0\u00bbflat\u00a0\u00bb shape=\u00a0\u00bbsquare\u00a0\u00bb link=\u00a0\u00bburl:https%3A%2F%2Fwww.filiere-g2m.fr%2F||target:%20_blank|\u00a0\u00bb][\/vc_tta_section][vc_tta_section title=\u00a0\u00bbAssociations de patients\u00a0\u00bb tab_id=\u00a0\u00bb1683728711576-57b1794f-ffcc\u00a0\u00bb][vc_btn title=\u00a0\u00bbAssociation Les Feux Follets\u00a0\u00bb style=\u00a0\u00bbflat\u00a0\u00bb shape=\u00a0\u00bbsquare\u00a0\u00bb link=\u00a0\u00bburl:https%3A%2F%2Fphenylcetonurie.org%2F||target:%20_blank|\u00a0\u00bb][vc_btn title=\u00a0\u00bbAssociation Francophone des Glycog\u00e9noses\u00a0\u00bb style=\u00a0\u00bbflat\u00a0\u00bb shape=\u00a0\u00bbsquare\u00a0\u00bb align=\u00a0\u00bbleft\u00a0\u00bb link=\u00a0\u00bburl:https%3A%2F%2Fwww.glycogenoses.org%2F||target:%20_blank|\u00a0\u00bb][vc_btn title=\u00a0\u00bbAssociation Les enfants du jardin\u00a0\u00bb style=\u00a0\u00bbflat\u00a0\u00bb shape=\u00a0\u00bbsquare\u00a0\u00bb link=\u00a0\u00bburl:http%3A%2F%2Fwww.lesenfantsdujardin.fr%2F||target:%20_blank|\u00a0\u00bb][\/vc_tta_section][\/vc_tta_accordion][\/vc_column][\/vc_row][vc_row][vc_column][vc_btn title=\u00a0\u00bbMaladies rares au CHU de Poitiers\u00a0\u00bb style=\u00a0\u00bbflat\u00a0\u00bb shape=\u00a0\u00bbsquare\u00a0\u00bb align=\u00a0\u00bbcenter\u00a0\u00bb i_icon_fontawesome=\u00a0\u00bbfa fa-info-circle\u00a0\u00bb add_icon=\u00a0\u00bbtrue\u00a0\u00bb link=\u00a0\u00bburl:https%3A%2F%2Fwww.chu-poitiers.fr%2Fmaladies-rares-accueil%2F|||\u00a0\u00bb][\/vc_column][\/vc_row]\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column][vc_column_text] Le centre de comp\u00e9tence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme diagnostic et prend en charge les patients, enfants et adultes, pr\u00e9sentant des maladies rares h\u00e9r\u00e9ditaires du M\u00e9tabolisme. Le centre collabore ainsi avec diff\u00e9rents services tels que la P\u00e9diatrie, la Neurologie, la MPR, la M\u00e9decine interne, la Cardiologie, la Pneumologie, la N\u00e9phrologie, l&rsquo;Ophtalmologie, l&rsquo;ORL, \u2026 Son [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-76","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Centre de comp\u00e9tence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme - Service de g\u00e9n\u00e9tique<\/title>\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.chu-poitiers.fr\/specialites\/service-de-genetique\/centre-de-competence-des-maladies-hereditaires-du-metabolisme\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Centre de comp\u00e9tence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme - Service de g\u00e9n\u00e9tique\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column][vc_column_text] Le centre de comp\u00e9tence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme diagnostic et prend en charge les patients, enfants et adultes, pr\u00e9sentant des maladies rares h\u00e9r\u00e9ditaires du M\u00e9tabolisme. 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