{"id":59537,"date":"2023-08-14T11:26:43","date_gmt":"2023-08-14T02:26:43","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=59537"},"modified":"2026-03-04T17:28:56","modified_gmt":"2026-03-04T08:28:56","slug":"mitochondrial-complex1-deficiency","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex1-deficiency\/","title":{"rendered":"\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f531\u6b20\u640d\u75c7(ACAD9\u95a2\u9023)"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>ACAD9\u95a2\u9023\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u306f\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u306e\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u5fc3\u7b4b\u75c7\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\u306e\u75c7\u72b6\u3092\u5448\u3057\u3001\u7279\u306b\u5e7c\u5c11\u671f\u306b\u91cd\u75c7\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\u7642\u6cd5\u304c\u52b9\u679c\u3092\u793a\u3059\u305f\u3081\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u304c\u91cd\u8981\u3067\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>ACAD9\uff5cMitochondrial Complex 1 Deficiency (ACAD9-related)<\/p>\n\n\n\n<p><sup>Mc1dn20; <a href=\"https:\/\/omim.org\/entry\/611126\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a>Mitochondrial Complex I Deficiency, Nuclear Type 20; Acyl-Coa Dehydrogenase 9 Deficiency; <\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>ACAD9\u95a2\u9023\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u306f\u3001\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3042\u308a\u3001\u7b2c3\u67d3\u8272\u4f53\u306e3q21.3\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b<em>ACAD9<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<em>ACAD9<\/em>\u306f\u3001\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d209\uff08Acyl-CoA Dehydrogenase Family Member 9, ACAD9\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u5f53\u521d\u306f\u8102\u80aa\u9178\u03b2\u9178\u5316\uff08Fatty Acid \u03b2-Oxidation, FAO\uff09\u306b\u95a2\u4e0e\u3059\u308b\u9175\u7d20\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u3001\u73fe\u5728\u3067\u306f\u305d\u306e\u4e3b\u306a\u5f79\u5272\u304c\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u96fb\u5b50\u4f1d\u9054\u7cfb\uff08Electron Transport Chain, ETC\uff09\u306e\u7b2c\u4e00\u9175\u7d20\u8907\u5408\u4f53\u3067\u3042\u308b\u8907\u5408\u4f53I\uff08Complex I, CI\uff09\u306e\u7d44\u307f\u7acb\u3066\u56e0\u5b50\u3067\u3042\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u8907\u5408\u4f53I\u306e\u6b20\u640d\u306b\u3088\u308a\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u304c\u969c\u5bb3\u3055\u308c\u3001\u7279\u306b\u4ee3\u8b1d\u306e\u6d3b\u767a\u306a\u7d44\u7e54\uff08\u5fc3\u81d3\u3001\u809d\u81d3\u3001\u9aa8\u683c\u7b4b\uff09\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>ACAD9\u6b20\u640d\u75c7\u306f\u3001\u7b4b\u75be\u60a3\uff08\u30df\u30aa\u30d1\u30c1\u30fc\uff09\u3001\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\u75c7\uff09\u3001\u8133\u75c7\u306a\u3069\u306e\u591a\u5f69\u306a\u81e8\u5e8a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002\u4e73\u5150\u671f\u3084\u5e7c\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u91cd\u75c7\u4f8b\u3067\u306f\u81f4\u547d\u7684\u3068\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\uff08\u30d3\u30bf\u30df\u30f3B2\uff09\u306b\u3088\u308b\u6cbb\u7642\u306b\u53cd\u5fdc\u3057\u3001\u7b4b\u529b\u306e\u6539\u5584\u3084\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306e\u8efd\u6e1b\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7\uff08OMIM 252010\uff09\u306f\u3001\u5c0f\u5150\u306b\u304a\u3051\u308b\u6700\u3082\u4e00\u822c\u7684\u306a\u907a\u4f1d\u6027\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u51fa\u751f10\u4e07\u4eba\u3042\u305f\u308a\u7d043\u4eba\uff081\/35,000\uff09\u306e\u983b\u5ea6\u3067\u767a\u751f\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u306b\u95a2\u9023\u3059\u308b\u591a\u304f\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306e\u4e2d\u3067\u3082\u3001<em>ACAD9<\/em>\u306e\u5909\u7570\u306f\u6bd4\u8f03\u7684\u9ad8\u3044\u5272\u5408\u3092\u5360\u3081\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u975e\u5e38\u306b\u5e45\u5e83\u304f\u3001\u65b0\u751f\u5150\u671f\u306b\u767a\u75c7\u3057\u65e9\u671f\u306b\u6b7b\u4ea1\u3059\u308b\u91cd\u75c7\u4f8b\u304b\u3089\u3001\u5c0f\u5150\u671f\u4ee5\u964d\u306b\u904b\u52d5\u8010\u6027\u306e\u4f4e\u4e0b\u3084\u4ee3\u8b1d\u6027\u7570\u5e38\u306e\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u793a\u3059\u8efd\u75c7\u4f8b\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u8a3a\u65ad\u306e\u96e3\u3057\u3055\u3084\u75c7\u72b6\u306e\u591a\u69d8\u6027\u306e\u305f\u3081\u3001<em>ACAD9<\/em>\u95a2\u9023\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u306e\u5b9f\u969b\u306e\u6709\u75c5\u7387\u306f\u904e\u5c0f\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p><em>ACAD9<\/em>\u306f\u3001\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\u3068\u3057\u3066\u306e\u6a5f\u80fd\u3092\u6301\u3064\u3068\u540c\u6642\u306b\u3001\u8907\u5408\u4f53I\u306e\u7d44\u307f\u7acb\u3066\u306b\u5fc5\u8981\u306a\u30b7\u30e3\u30da\u30ed\u30f3\u3068\u3057\u3066\u306e\u5f79\u5272\u3082\u679c\u305f\u3057\u307e\u3059\u3002<em>ACAD9<\/em>\u306f\u3001\u4ed6\u306e\u7d44\u307f\u7acb\u3066\u56e0\u5b50\u3067\u3042\u308bECSIT\uff08Evolutionarily Conserved Signaling Intermediate in Toll Pathway\uff09\u3084NDUFAF1\uff08NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 1\uff09\u3068\u76f8\u4e92\u4f5c\u7528\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u306e\u5f62\u6210\u306b\u95a2\u4e0e\u3059\u308b\u300c\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u7d44\u307f\u7acb\u3066\u8907\u5408\u4f53\uff08Mitochondrial Complex I Assembly Complex, MCIA\uff09\u300d\u3092\u5f62\u6210\u3057\u307e\u3059\u3002\u3053\u306e\u7d44\u307f\u7acb\u3066\u30d7\u30ed\u30bb\u30b9\u304c\u6b63\u3057\u304f\u884c\u308f\u308c\u306a\u3044\u3068\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><em>ACAD9<\/em>\u306e\u75c5\u7684\u5909\u7570\u306f\u3001\u3053\u306e\u7d44\u307f\u7acb\u3066\u904e\u7a0b\u3092\u59a8\u5bb3\u3057\u3001\u8907\u5408\u4f53I\u306e\u6d3b\u6027\u3092\u4f4e\u4e0b\u3055\u305b\u307e\u3059\u3002\u7279\u5b9a\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u306f\u3001\u8907\u5408\u4f53I\u306e\u7d44\u307f\u7acb\u3066\u3068\u8102\u80aa\u9178\u9178\u5316\u306e\u4e21\u65b9\u304c\u969c\u5bb3\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e00\u65b9\u306e\u6a5f\u80fd\u306e\u307f\u304c\u4e3b\u306b\u5f71\u97ff\u3092\u53d7\u3051\u308b\u5909\u7570\u3082\u5b58\u5728\u3057\u307e\u3059\u3002\u3088\u308a\u91cd\u7be4\u306a\u75c7\u72b6\u306f\u3001\u3053\u308c\u3089\u306e\u4e21\u65b9\u306e\u6a5f\u80fd\u304c\u540c\u6642\u306b\u640d\u306a\u308f\u308c\u308b\u5834\u5408\u306b\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u3057\u304b\u3057\u3001<em>ACAD9<\/em>\u95a2\u9023\u306e\u969c\u5bb3\u306f\u3001VLCAD\uff08Very Long-Chain Acyl-CoA Dehydrogenase\uff09\u3084LCAD\uff08Long-Chain Acyl-CoA Dehydrogenase\uff09\u306e\u6b20\u640d\u3068\u306f\u7570\u306a\u308a\u3001\u7d14\u7c8b\u306a\u8102\u80aa\u9178\u9178\u5316\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div class=\"wp-block-greentreelabs-post-snippets-block\">ACAD9\u907a\u4f1d\u5b50\u3067\u3042\u308c\u3070\u5f53\u9662\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/n-advance\/\">N-advance FM+\u30d7\u30e9\u30f3<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/n-advance\/\">N-advance GM+\u30d7\u30e9\u30f3<\/a>\u3067\u691c\u67fb\u304c\u53ef\u80fd\u3068\u306a\u3063\u3066\u304a\u308a\u307e\u3059\u3002<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>ACAD9\u6b20\u640d\u75c7\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u3001\u8907\u5408\u4f53I\u306e\u6a5f\u80fd\u4f4e\u4e0b\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65b0\u751f\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u91cd\u75c7\u578b\u3067\u306f\u3001\u6025\u6027\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u8133\u75c7\u3001\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u306a\u3069\u304c\u898b\u3089\u308c\u3001\u4e73\u5150\u671f\u306b\u6b7b\u4ea1\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3001\u4e73\u5150\u671f\u3084\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u5834\u5408\u306f\u3001\u9032\u884c\u6027\u306e\u7b4b\u75be\u60a3\u3001\u904b\u52d5\u8010\u6027\u306e\u4f4e\u4e0b\u3001\u767a\u9054\u9045\u6ede\u3001\u7e70\u308a\u8fd4\u3059\u4ee3\u8b1d\u6027\u5371\u6a5f\u306a\u3069\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u795e\u7d4c\u7cfb\u306e\u5f71\u97ff\u3068\u3057\u3066\u3001\u3051\u3044\u308c\u3093\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u904b\u52d5\u969c\u5bb3\u3001\u8996\u795e\u7d4c\u969c\u5bb3\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u809d\u969c\u5bb3\u3084\u814e\u969c\u5bb3\u304c\u8a8d\u3081\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u611f\u67d3\u75c7\u3084\u7d76\u98df\u306a\u3069\u306e\u30b9\u30c8\u30ec\u30b9\u304c\u5f15\u304d\u91d1\u3068\u306a\u3063\u3066\u30e9\u30a4\u75c7\u5019\u7fa4\uff08Reye syndrome\uff09\u69d8\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u3001\u7b4b\u75c7\u72b6\u306e\u307f\u3092\u4e3b\u3068\u3057\u3001\u5fc3\u75be\u60a3\u3092\u4f34\u308f\u306a\u3044\u8efd\u75c7\u578b\u3082\u5b58\u5728\u3057\u307e\u3059\u3002\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\uff08\u30d3\u30bf\u30df\u30f3B2\uff09\u306b\u53cd\u5fdc\u3059\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u6cbb\u7642\u306e\u30bf\u30fc\u30b2\u30c3\u30c8\u3068\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>ACAD9\u6b20\u640d\u75c7\u306e\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u3001\u4ee3\u8b1d\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306a\u3069\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u5316\u5b66\u7684\u691c\u67fb\u3067\u306f\u3001\u7b4b\u8089\u3084\u809d\u81d3\u3001\u76ae\u819a\u7dda\u7dad\u82bd\u7d30\u80de\u3067\u306e\u8907\u5408\u4f53I\u6d3b\u6027\u306e\u4f4e\u4e0b\u304c\u78ba\u8a8d\u3055\u308c\u3001\u8840\u6db2\u3084\u9ac4\u6db2\u4e2d\u306e\u4e73\u9178\u6fc3\u5ea6\u304c\u4e0a\u6607\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u308a\u3001<em>ACAD9<\/em>\u306e\u4e8c\u30a2\u30ec\u30eb\u6027\u75c5\u7684\u5909\u7570\uff08\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u5909\u7570\u30921\u3064\u305a\u3064\u53d7\u3051\u7d99\u3050\u3053\u3068\uff09\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7b4b\u751f\u691c\u3067\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u7570\u5e38\uff08\u30e9\u30b0\u30c9\u30ec\u30c3\u30c9\u30d5\u30a1\u30a4\u30d0\u30fc\u3084\u7b4b\u7dda\u7dad\u4e0b\u306e\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u84c4\u7a4d\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u3001\u8102\u80aa\u9178\u4ee3\u8b1d\u7570\u5e38\u306b\u95a2\u9023\u3057\u305f\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u306e\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u304c\u5909\u5316\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u691c\u51fa\u3055\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3067\u306f\u3001\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u3092\u4f34\u3046\u60a3\u8005\u306e\u8a3a\u65ad\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>ACAD9\u6b20\u640d\u75c7\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u5bfe\u75c7\u7642\u6cd5\u3084\u4ee3\u8b1d\u30b5\u30dd\u30fc\u30c8\u306b\u3088\u308a\u75c7\u72b6\u306e\u6539\u5584\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\uff08\u30d3\u30bf\u30df\u30f3B2\uff09\u306e\u9ad8\u7528\u91cf\u88dc\u5145\uff0815 mg\/kg\/\u65e5\uff09\u306f\u3001ACAD9\u306e\u6b8b\u5b58\u6d3b\u6027\u3092\u5897\u5f37\u3057\u3001\u75c7\u72b6\u306e\u6539\u5584\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002L-\u30ab\u30eb\u30cb\u30c1\u30f3\u3001\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u3001\u6297\u9178\u5316\u5264\u306e\u88dc\u5145\u3082\u3001\u9178\u5316\u30b9\u30c8\u30ec\u30b9\u3092\u8efd\u6e1b\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u3092\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u76ee\u7684\u3067\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u5fc3\u7b4b\u75c7\u3092\u5408\u4f75\u3059\u308b\u5834\u5408\u306f\u3001\u03b2\u906e\u65ad\u85ac\u3084ACE\u963b\u5bb3\u85ac\u306b\u3088\u308b\u6cbb\u7642\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7d76\u98df\u3092\u907f\u3051\u3001\u9069\u5207\u306a\u30ab\u30ed\u30ea\u30fc\u6442\u53d6\u3092\u78ba\u4fdd\u3059\u308b\u3053\u3068\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u4e88\u5f8c\u306f\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u3084\u6cbb\u7642\u3078\u306e\u53cd\u5fdc\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u65b0\u751f\u5150\u671f\u767a\u75c7\u3067\u5fc3\u7b4b\u75c7\u3092\u4f34\u3046\u91cd\u75c7\u4f8b\u306f\u4e88\u5f8c\u4e0d\u826f\u3067\u3059\u304c\u3001\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\u7642\u6cd5\u304c\u594f\u529f\u3059\u308b\u60a3\u8005\u3067\u306f\u3001\u7b4b\u529b\u306e\u6539\u5584\u3084\u4ee3\u8b1d\u306e\u5b89\u5b9a\u5316\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002\u9577\u671f\u7684\u306a\u7ba1\u7406\u306b\u306f\u3001\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u306b\u3088\u308b\u7d99\u7d9a\u7684\u306a\u30b1\u30a2\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1101\/2021.01.07.425795\">Xia, C., Lou, B., Fu, Z., Mohsen, A.-W., Vockley, J., &amp; Kim, J.-J. P. (2021). <em>Molecular mechanism of ACAD9 in mitochondrial respiratory complex 1 assembly<\/em>. https:\/\/doi.org\/10.1101\/2021.01.07.425795<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s00109-019-01771-3\">Forte, M., Palmerio, S., Bianchi, F. <em>et al.<\/em> Mitochondrial complex I deficiency and cardiovascular diseases: current evidence and future directions. <em>J Mol Med<\/em> <strong>97<\/strong>, 579\u2013591 (2019). https:\/\/doi.org\/10.1007\/s00109-019-01771-3<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41598-024-63027-6\">Narayanan, B., Xia, C., McAndrew, R. <em>et al.<\/em> Structural basis for expanded substrate specificities of human long chain acyl-CoA dehydrogenase and related acyl-CoA dehydrogenases. <em>Sci Rep<\/em> <strong>14<\/strong>, 12976 (2024). https:\/\/doi.org\/10.1038\/s41598-024-63027-6<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1017\/9781108918978.034\">Vockley, J. (2021). Inborn errors of fatty acid oxidation. In F. J. Suchy, R. J. Sokol, W. F. Balistreri, J. A. Bezerra, C. L. Mack, &amp; B. L. Shneider (Eds.), <em>Liver Disease in Children<\/em> (5th ed., pp. 611\u2013627). Cambridge University Press. https:\/\/doi.org\/10.1017\/9781108918978.034<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41467-022-34694-8\">Lin, C., Yang, Q., Guo, D. <em>et al.<\/em> Impaired mitochondrial oxidative metabolism in skeletal progenitor cells leads to musculoskeletal disintegration. <em>Nat Commun<\/em> <strong>13<\/strong>, 6869 (2022). https:\/\/doi.org\/10.1038\/s41467-022-34694-8<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ymgme.2021.09.002\">Sinsheimer, A., Mohsen, A.-W., Bloom, K., Karunanidhi, A., Bharathi, S., Wu, Y. L., Schiff, M., Wang, Y., Goetzman, E. S., Ghaloul-Gonzalez, L., &amp; Vockley, J. (2021). Development and characterization of a mouse model for Acad9 deficiency. <em>Molecular Genetics and Metabolism<\/em>, <em>134<\/em>(1\u20132), 156\u2013163. https:\/\/doi.org\/10.1016\/j.ymgme.2021.09.002<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.mito.2021.05.002\">Gueguen, N., Piarroux, J., Sarzi, E., Benkirane, M., Manes, G., Delettre, C., Amedro, P., Leboucq, N., Koenig, M., Meyer, P., Meunier, I., Reynier, P., Lenaers, G., &amp; Roubertie, A. (2021). Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder? <em>Mitochondrion<\/em>, <em>59<\/em>, 169\u2013174. https:\/\/doi.org\/10.1016\/j.mito.2021.05.002<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-59537","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\/59537","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":7,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/59537\/revisions"}],"predecessor-version":[{"id":125417,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/59537\/revisions\/125417"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=59537"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}