{"id":44,"date":"2015-05-20T09:52:57","date_gmt":"2015-05-20T08:52:57","guid":{"rendered":"http:\/\/127.0.0.1\/projects\/afg\/?page_id=44"},"modified":"2021-01-28T17:35:40","modified_gmt":"2021-01-28T16:35:40","slug":"type-0-deficit-en-glycogene","status":"publish","type":"page","link":"https:\/\/www.glycogenoses.org\/st_qlfctn\/les-glycogenoses\/type-0-deficit-en-glycogene\/","title":{"rendered":"Type 0 : D\u00e9ficit en Glycog\u00e8ne synth\u00e9tase"},"content":{"rendered":"<p><section id=\"bt_section6a370872473d5\"  class=\"boldSection btDivider topSemiSpaced bottomSemiSpaced btDarkSkin gutter inherit\" style=\"background-color:#0cb8b6;\"><div class=\"port\"><div class=\"boldCell\"><div class=\"boldCellInner\"><div class=\"boldRow  \" ><div class=\"boldRowInner\"><div class=\"rowItem col-md-12 col-ms-12  btTextLeft\"  ><div class=\"rowItemContent\" ><header class=\"header btClear large btDash bottomDash  btNormalDash\" ><div class=\"btSuperTitle\">Les Glycog\u00e9noses<\/div><div class=\"dash\"><h2><span class=\"headline\"><em>Type 0 : D\u00e9ficit en Glycog\u00e8ne synth\u00e9tase<\/em><\/span><\/h2><\/div><\/header><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/section><section id=\"bt_section6a370872475d5\"  class=\"boldSection topSemiSpaced bottomSpaced gutter inherit\" style=\"background-color:#f1f1f1;\"><div class=\"port\"><div class=\"boldCell\"><div class=\"boldCellInner\"><div class=\"boldRow  \" ><div class=\"boldRowInner\"><div class=\"rowItem col-md-12 col-ms-12  btTextLeft\"  ><div class=\"rowItemContent\" ><header class=\"header btClear small  btNormalDash\" ><div class=\"dash\"><h4><span class=\"headline\"><em>Expliqu\u00e9e par le Pr Philippe LABRUNE, Pr\u00e9sident du Conseil Scientifique de l\u2019AFG<\/em><\/span><\/h4><\/div><\/header><div class=\"btClear btSeparator bottomSmallSpaced border\" ><hr><\/div><div class=\"btText\" ><\/p>\n<p><strong>La glycog\u00e9nose de type 0 ou d\u00e9ficit en glycog\u00e8ne synth\u00e9tase<\/strong> n\u2019est pas \u00e0 proprement parler une glycog\u00e9nose puisque le d\u00e9ficit enzymatique induit une diminution des r\u00e9serves glycog\u00e9niques. Il s\u2019agit d\u2019un d\u00e9ficit g\u00e9n\u00e9tique tr\u00e8s rare de transmission r\u00e9cessive autosomique.<br \/>\nIl existe une forme h\u00e9patique et une forme musculaire, les deux enzymes \u00e9tant diff\u00e9rentes.<\/p>\n<ul>\n<li>Dans la forme h\u00e9patique, les patients pr\u00e9sentent une fatigue matinale avec une hypoglyc\u00e9mie de je\u00fbne (sans h\u00e9patom\u00e9galie), et une hyperc\u00e9ton\u00e9mie sans hyperalanin\u00e9mie, ni hyperlactacid\u00e9mie. Apr\u00e8s un repas, on observe une hyperglyc\u00e9mie majeure ainsi qu\u2019une augmentation des lactates et de l\u2019alanine.<\/li>\n<li>Le diagnostic biologique, suspect\u00e9 apr\u00e8s \u00e9preuve de charge en glucose, n\u00e9cessite une biopsie de foie qui montre une concentration en glycog\u00e8ne normale ou peu diminu\u00e9e et permet de mettre en \u00e9vidence le d\u00e9ficit enzymatique (qui n\u2019est pas exprim\u00e9 dans le muscle, les \u00e9rythrocytes, les leucocytes ou les fibroblastes). Cependant, le g\u00e8ne, localis\u00e9 en 12p12.2, ayant \u00e9t\u00e9 identifi\u00e9, la recherche de mutation devrait pouvoir, dans la majorit\u00e9 des cas, \u00e9viter le recours \u00e0 la biopsie h\u00e9patique.<\/li>\n<li>Le traitement est di\u00e9t\u00e9tique avec, dans la journ\u00e9e, des repas fr\u00e9quents riches en prot\u00e9ines et l\u2019addition d\u2019amidon cru le soir.<\/li>\n<li>Une forme musculaire vient d\u2019\u00eatre rapport\u00e9e chez trois enfants de la m\u00eame fratrie. Les signes cliniques \u00e9taient une intol\u00e9rance \u00e0 l\u2019effort et une atteinte du myocarde.<\/li>\n<\/ul>\n<p>\n<\/div><div class=\"btClear btSeparator topSmallSpaced bottomSmallSpaced border\" ><hr><\/div><div class=\"btIconImageRow btTextRight btIconsNormalPosition\" ><span class=\"btIco btIcoOutlineType btIcoSmallSize btIcoAccentColor   \" ><a href=\"https:\/\/www.facebook.com\/groups\/340091143124748\"  target = \"_blank\" data-ico-fa=\"&#xf09a;\" class=\"btIcoHolder\"><em><\/em><\/a><\/span><span class=\"btIco btIcoOutlineType btIcoSmallSize btIcoAccentColor   \" ><a href=\"mailto:secretariat@glycogenoses.org\"  target = \"_blank\" data-ico-fa=\"&#xf0e0;\" class=\"btIcoHolder\"><em><\/em><\/a><\/span><\/div><\/div><\/div><\/div><\/div><div class=\"boldRow  \" ><div class=\"boldRowInner\"><\/div><\/div><\/div><\/div><\/div><\/section><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":7,"featured_media":0,"parent":10,"menu_order":1,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-44","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages\/44","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/comments?post=44"}],"version-history":[{"count":21,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages\/44\/revisions"}],"predecessor-version":[{"id":1837,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages\/44\/revisions\/1837"}],"up":[{"embeddable":true,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages\/10"}],"wp:attachment":[{"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/media?parent=44"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}