{"id":121997,"date":"2026-01-08T12:39:01","date_gmt":"2026-01-08T03:39:01","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=121997"},"modified":"2026-03-03T16:25:04","modified_gmt":"2026-03-03T07:25:04","slug":"mitochondrial-complex-1-deficiency-acad9-related-acad9","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-1-deficiency-acad9-related-acad9\/","title":{"rendered":"\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f531\u6b20\u640d\u75c7\uff08ACAD9\u95a2\u9023\uff09"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f531\u6b20\u640d\u75c7\uff08ACAD9\u95a2\u9023\uff09\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u96fb\u5b50\u4f1d\u9054\u7cfb\u306e\u8907\u5408\u4f53I\uff08NADH\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\uff09\u306e\u5f62\u6210\u304a\u3088\u3073\u5b89\u5b9a\u5316\u306b\u95a2\u4e0e\u3059\u308bACAD9\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u3001\u5e0c\u5c11\u306a\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u3067\u3059\u3002\u8907\u5408\u4f53I\u306fATP\u7523\u751f\u306e\u6700\u521d\u306e\u6bb5\u968e\u3092\u62c5\u3046\u91cd\u8981\u306a\u9175\u7d20\u8907\u5408\u4f53\u3067\u3042\u308a\u3001\u305d\u306e\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u308a\u7d30\u80de\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u304c\u8457\u3057\u304f\u969c\u5bb3\u3055\u308c\u307e\u3059\u3002\u3068\u304f\u306b\u30a8\u30cd\u30eb\u30ae\u30fc\u9700\u8981\u306e\u9ad8\u3044\u5fc3\u7b4b\u3001\u9aa8\u683c\u7b4b\u3001\u4e2d\u67a2\u795e\u7d4c\u7cfb\u304c\u969c\u5bb3\u3055\u308c\u3084\u3059\u304f\u3001\u4e73\u5150\u671f\u304b\u3089\u5fc3\u7b4b\u75c7\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u767a\u9054\u9045\u6ede\u3001\u547c\u5438\u969c\u5bb3\u306a\u3069\u591a\u5f69\u306a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>ACAD9\u306f\u8102\u80aa\u9178\u03b2\u9178\u5316\u9175\u7d20\u3068\u3057\u3066\u306e\u6a5f\u80fd\u3082\u6301\u3061\u307e\u3059\u304c\u3001\u672c\u75be\u60a3\u3067\u306f\u4e3b\u306b\u8907\u5408\u4f53I\u306e\u7d44\u307f\u7acb\u3066\u56e0\u5b50\u3068\u3057\u3066\u306e\u5f79\u5272\u969c\u5bb3\u304c\u75c5\u614b\u306e\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u81e8\u5e8a\u50cf\u306f\u91cd\u75c7\u65b0\u751f\u5150\u578b\u304b\u3089\u3001\u601d\u6625\u671f\u30fb\u6210\u4eba\u671f\u306b\u767a\u75c7\u3059\u308b\u8efd\u75c7\u578b\u307e\u3067\u5e45\u5e83\u3044\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3092\u793a\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>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u306e\u4e2d\u3067\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u4e00\u3064\u3067\u3059\u304c\u3001ACAD9\u95a2\u9023\u578b\u306f\u305d\u306e\u4e2d\u3067\u3082\u7a00\u306a\u539f\u56e0\u3067\u3059\u3002\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u4e0d\u660e\u3067\u3059\u304c\u3001\u4e16\u754c\u7684\u306b\u6570\u767e\u4f8b\u672a\u6e80\u306e\u5831\u544a\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002\u5c0f\u5150\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u60a3\u8005\u306e\u6570\uff05\u7a0b\u5ea6\u3092\u5360\u3081\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\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\u306fACAD9\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002ACAD9\u907a\u4f1d\u5b50\u306f\u30d2\u30c83\u756a\u67d3\u8272\u4f53\uff083q21\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u819c\u306b\u5c40\u5728\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u8907\u5408\u4f53I\u306e\u6b63\u3057\u3044\u7d44\u307f\u7acb\u3066\u3068\u5b89\u5b9a\u5316\u306b\u4e0d\u53ef\u6b20\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u8907\u5408\u4f53I\u6d3b\u6027\u304c\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001NADH\u304b\u3089\u96fb\u5b50\u4f1d\u9054\u7cfb\u3078\u306e\u96fb\u5b50\u4f9b\u7d66\u304c\u969c\u5bb3\u3055\u308c\u3001ATP\u7523\u751f\u304c\u4f4e\u4e0b\u3057\u3001\u4e73\u9178\u7523\u751f\u304c\u4ea2\u9032\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<p>\u75c7\u72b6\u306f\u5e74\u9f62\u3068\u81d3\u5668\u969c\u5bb3\u306e\u90e8\u4f4d\u306b\u3088\u308a\u591a\u5f69\u3067\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n<p><strong>\u65b0\u751f\u5150\u30fb\u4e73\u5150\u671f\u767a\u75c7\u578b<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u4e0d\u826f\u3001\u4f53\u91cd\u5897\u52a0\u4e0d\u826f<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u80a5\u5927\u578b\u307e\u305f\u306f\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7<\/li>\n\n\n\n<li>\u547c\u5438\u4e0d\u5168<\/li>\n\n\n\n<li>\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5c0f\u5150\u671f\u301c\u6210\u4eba\u671f\u767a\u75c7\u578b<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u904b\u52d5\u4e0d\u8010\u6027\u3001\u6613\u75b2\u52b4\u611f<\/li>\n\n\n\n<li>\u7b4b\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u904b\u52d5\u5f8c\u7b4b\u75db<\/li>\n\n\n\n<li>\u767a\u9054\u9045\u6ede\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a><\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093<\/li>\n<\/ul>\n\n\n\n<p>\u5fc3\u7b4b\u75c7\u306f\u672c\u75be\u60a3\u306e\u6700\u3082\u91cd\u8981\u306a\u4e88\u5f8c\u898f\u5b9a\u56e0\u5b50\u3067\u3059\u3002(PubMed)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u4ee5\u4e0b\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u81e8\u5e8a\u6240\u898b<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u7b4b\u75c7\u3068\u7b4b\u75c7\u72b6\u306e\u4f75\u5b58<\/li>\n\n\n\n<li>\u767a\u9054\u9045\u6ede\u3001\u6613\u75b2\u52b4<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u751f\u5316\u5b66\u691c\u67fb<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u4e2d\u4e73\u9178\u9ad8\u5024<\/li>\n\n\n\n<li>\u4e73\u9178\/\u30d4\u30eb\u30d3\u30f3\u9178\u6bd4\u4e0a\u6607<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7b4b\u751f\u691c\u30fb\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8907\u5408\u4f53I\u6d3b\u6027\u4f4e\u4e0b<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u5b50\u8a3a\u65ad<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ACAD9\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad (PMC)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d\u6839\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4ee3\u8b1d\u88dc\u52a9\u7642\u6cd5\u3068\u81d3\u5668\u5225\u7ba1\u7406\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\u88dc\u5145\uff08ACAD9\u95a2\u9023\u578b\u3067\u6709\u52b9\u4f8b\u3042\u308a\uff09<\/li>\n\n\n\n<li>\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10<\/li>\n\n\n\n<li>L-\u30ab\u30eb\u30cb\u30c1\u30f3\u88dc\u5145<\/li>\n\n\n\n<li>\u5fc3\u4e0d\u5168\u6cbb\u7642<\/li>\n\n\n\n<li>\u547c\u5438\u7ba1\u7406<\/li>\n\n\n\n<li>\u611f\u67d3\u4e88\u9632<\/li>\n<\/ul>\n\n\n\n<p>\u91cd\u75c7\u5fc3\u7b4b\u75c7\u4f8b\u3067\u306f\u5fc3\u79fb\u690d\u304c\u691c\u8a0e\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002(Nature)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<p>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f531\u6b20\u640d\u75c7\uff08ACAD9\uff09\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>Haack TB et al. Deficiency of ACAD9 causes mitochondrial complex I deficiency. Nat Genet. 2010.(Nature)<br>ACAD9-related mitochondrial disease \u2014 GeneReviews, PubMed Central.(PMC)<br>Mitochondrial Complex I Deficiency \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-121997","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\/121997","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\/121997\/revisions"}],"predecessor-version":[{"id":125282,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121997\/revisions\/125282"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121997"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}