{"id":122043,"date":"2026-01-08T15:46:40","date_gmt":"2026-01-08T06:46:40","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=122043"},"modified":"2026-03-03T15:29:05","modified_gmt":"2026-03-03T06:29:05","slug":"lipoamide-dehydrogenase-deficiency-maple-syrup-srine-disease-type-3-dld","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lipoamide-dehydrogenase-deficiency-maple-syrup-srine-disease-type-3-dld\/","title":{"rendered":"\u30b8\u30d2\u30c9\u30ed\u30ea\u30dd\u30a2\u30df\u30c9\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08DLD\u95a2\u9023\uff09"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>\u30b8\u30d2\u30c9\u30ed\u30ea\u30dd\u30a2\u30df\u30c9\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\uff08DLD\uff09\u6b20\u640d\u75c7\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u3067\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u306b\u95a2\u4e0e\u3059\u308bE3\u9175\u7d20\uff08\u30b8\u30d2\u30c9\u30ed\u30ea\u30dd\u30a2\u30df\u30c9\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\uff09\u306e\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002DLD\u306f\u30d4\u30eb\u30d3\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u8907\u5408\u4f53\u3001\u03b1\u30b1\u30c8\u30b0\u30eb\u30bf\u30eb\u9178\u8131\u6c34\u7d20\u9175\u7d20\u8907\u5408\u4f53\u3001\u5206\u5c90\u9396\u03b1\u30b1\u30c8\u9178\u8131\u6c34\u7d20\u9175\u7d20\u8907\u5408\u4f53\u306e\u5171\u901a\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u7cd6\u30fb\u8102\u8cea\u30fb\u30a2\u30df\u30ce\u9178\u4ee3\u8b1d\u304c\u540c\u6642\u306b\u969c\u5bb3\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306fMaple Syrup Urine Disease\uff08MSUD\uff093\u578b\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u81e8\u5e8a\u50cf\u306fMSUD\u3068\u306f\u7570\u306a\u308a\u3001\u4e73\u5150\u671f\u767a\u75c7\u306e\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u4f4e\u8840\u7cd6\u3001\u809d\u969c\u5bb3\u3001\u795e\u7d4c\u75c7\u72b6\u306a\u3069\u591a\u81d3\u5668\u969c\u5bb3\u3092\u5448\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75ab\u5b66<\/strong><\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u6975\u3081\u3066\u7a00\u3067\u3001\u4e16\u754c\u7684\u306a\u5831\u544a\u6570\u306f100\u4f8b\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u5b9a\u306e\u6c11\u65cf\u96c6\u56e3\u3067\u306e\u96c6\u7a4d\u306f\u77e5\u3089\u308c\u3066\u3044\u307e\u305b\u3093\u3002(PMC)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306fDLD\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002DLD\u907a\u4f1d\u5b50\u306f\u30d2\u30c87\u756a\u67d3\u8272\u4f53\uff087q31\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2E3\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u306fNAD+\u518d\u751f\u3068\u96fb\u5b50\u4f1d\u9054\u306b\u5fc5\u9808\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n<p>\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75c7\u72b6<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u65b0\u751f\u5150\u30fb\u4e73\u5150\u671f<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u4e0d\u826f<\/li>\n\n\n\n<li>\u5614\u5410<\/li>\n\n\n\n<li>\u4f4e\u8840\u7cd6<\/li>\n\n\n\n<li>\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7<\/li>\n\n\n\n<li>\u809d\u816b\u5927<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u5c0f\u5150\u671f\u4ee5\u964d<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u904b\u52d5\u5931\u8abf<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/li>\n\n\n\n<li>\u53cd\u5fa9\u3059\u308b\u4ee3\u8b1d\u6027\u30af\u30ea\u30fc\u30bc<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9<\/li>\n\n\n\n<li>\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7<\/li>\n\n\n\n<li>\u5206\u5c90\u9396\u30a2\u30df\u30ce\u9178\u7570\u5e38<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u8a3a\u65ad\uff08DLD\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4ee3\u8b1d\u6027\u30af\u30ea\u30fc\u30bc\u6642\u306e\u8fc5\u901f\u88dc\u6b63\uff08\u7cd6\u88dc\u7d66\u30fb\u900f\u6790\uff09<\/li>\n\n\n\n<li>\u30bf\u30f3\u30d1\u30af\u5236\u9650<\/li>\n\n\n\n<li>\u5206\u5c90\u9396\u30a2\u30df\u30ce\u9178\u5236\u9650<\/li>\n\n\n\n<li>\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\u88dc\u5145\uff08\u53cd\u5fdc\u4f8b\uff09<\/li>\n\n\n\n<li>\u611f\u67d3\u30fb\u7d76\u98df\u56de\u907f<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<p>\u30b8\u30d2\u30c9\u30ed\u30ea\u30dd\u30a2\u30df\u30c9\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7 \u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<br>Quinlan CL et al. DLD deficiency: a metabolic disorder affecting multiple enzyme complexes. Mol Genet Metab. 2017.(Nature)<br>DLD Deficiency \u2014 GeneReviews, PubMed Central.(PMC)<br>DLD Deficiency \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n\n\n\n<p><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122043","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122043","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122043\/revisions"}],"predecessor-version":[{"id":125268,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122043\/revisions\/125268"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122043"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}