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class=\"wp-block-list\">\n<li><strong>\u9577\u6642\u9593\u306e\u7a7a\u8179\u3092\u907f\u3051\u308b<\/strong>\uff1a\u3068\u304f\u306b\u4e73\u5e7c\u5150\u671f\u3084\u3001\u71b1\u30fb\u5614\u5410\u306a\u3069\u3067\u98df\u4e8b\u304c\u3068\u308c\u306a\u3044\u3068\u304d\u306f\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u4f53\u8abf\u3092\u304f\u305a\u3057\u305f\u3068\u304d\u306e\u5bfe\u5fdc\u3092\u6c7a\u3081\u3066\u304a\u304f<\/strong>\uff1a\u304b\u304b\u308a\u3064\u3051\u533b\u3068\u76f8\u8ac7\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u70b9\u6ef4\u3067\u30d6\u30c9\u30a6\u7cd6\u3092\u88dc\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30ab\u30eb\u30cb\u30c1\u30f3\u306e\u88dc\u5145<\/strong>\uff1a\u8840\u6db2\u4e2d\u306e\u30ab\u30eb\u30cb\u30c1\u30f3\u304c\u4f4e\u3044\u5834\u5408\u306a\u3069\u306b\u4f7f\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u52b9\u679c\u306e\u6839\u62e0\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u5b9a\u671f\u7684\u306a\u78ba\u8a8d<\/strong>\uff1a\u767a\u9054\u306e\u9045\u308c\u304c\u307f\u3089\u308c\u305f\u3068\u304d\u306f\u3001\u7642\u80b2\u3084\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306a\u3069\u306e\u652f\u63f4\u306b\u3064\u306a\u3052\u307e\u3059<\/li>\n\n\n\n<li><strong>\u81ea\u5df1\u5224\u65ad\u3067\u98df\u4e8b\u3092\u5236\u9650\u3057\u306a\u3044<\/strong>\uff1a\u53b3\u3057\u3044\u305f\u3093\u3071\u304f\u8cea\u5236\u9650\u306f\u901a\u5e38\u5fc5\u8981\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u4e3b\u6cbb\u533b\u3068\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044<\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>ACADSB<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p class=\"wp-block-paragraph\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>ACADSB<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>ACADSB<\/strong> \u306f<strong>\u77ed\u9396\u30fb\u5206\u679d\u9396\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\uff08SBCAD\uff09<\/strong>\u3092\u30b3\u30fc\u30c9\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u3067<strong>L-\u30a4\u30bd\u30ed\u30a4\u30b7\u30f3\u7570\u5316\u7d4c\u8def\u306b\u304a\u3051\u308b2-\u30e1\u30c1\u30eb\u30d6\u30c1\u30ea\u30ebCoA\u304b\u3089\u30c1\u30b0\u30ea\u30ebCoA\u3078\u306e\u8131\u6c34\u7d20\u53cd\u5fdc<\/strong>\u3092\u62c5\u3046\u3002\u6b20\u640d\u306b\u3088\u308a2-\u30e1\u30c1\u30eb\u30d6\u30c1\u30ea\u30ebCoA\u304c\u84c4\u7a4d\u3057\u3001<strong>\u8840\u4e2d2-\u30e1\u30c1\u30eb\u30d6\u30c1\u30ea\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\uff08C5\uff09\u3068\u5c3f\u4e2d2-\u30e1\u30c1\u30eb\u30d6\u30c1\u30ea\u30eb\u30b0\u30ea\u30b7\u30f3\u304c\u5897\u52a0<\/strong>\u3059\u308b\u3002\u672c\u75c7\u306f2000\u5e74\u306b\u72ec\u7acb\u3057\u305f\u75be\u60a3\u5358\u4f4d\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3001\u540c\u6642\u306b\u30d0\u30ea\u30f3\u7570\u5316\u306b\u306f\u5225\u306e\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\u304c\u95a2\u4e0e\u3059\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u305f\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u30e2\u30f3\u65cf\uff08Hmong\uff09\u96c6\u56e3\u3067\u306f\u5275\u59cb\u8005\u5909\u7570\uff08c.1165A&gt;G\u3001\u30a8\u30af\u30bd\u30f310\u306e\u30b9\u30ad\u30c3\u30d4\u30f3\u30b0\u3092\u8d77\u3053\u3059\uff09\u306b\u3088\u308a\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u540c\u96c6\u56e3\u306e\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u591a\u6570\u304c\u540c\u5b9a\u3055\u308c\u3066\u3044\u308b<\/strong>\u3002\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u540c\u5b9a\u3055\u308c\u305f\u4f8b\u306e\u5927\u591a\u6570\u306f\u7121\u75c7\u72b6\u3067\u7d4c\u904e\u3057\u3066\u304a\u308a\u3001<strong>\u521d\u671f\u306e\u75c7\u4f8b\u5831\u544a\u306b\u307f\u3089\u308c\u305f\u767a\u9054\u9045\u6ede\u30fb\u3066\u3093\u304b\u3093\u30fb\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u3064\u3044\u3066\u306f\u3001\u75c7\u72b6\u3092\u5951\u6a5f\u306b\u8a3a\u65ad\u3055\u308c\u305f\u4f8b\u306b\u504f\u3063\u305f\u78ba\u8a8d\u30d0\u30a4\u30a2\u30b9\u306e\u5f71\u97ff\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u308b<\/strong>\u3002\u73fe\u6642\u70b9\u3067\u306f\u81e8\u5e8a\u7684\u610f\u7fa9\u306e\u4e4f\u3057\u3044\u751f\u5316\u5b66\u7684\u8868\u73fe\u578b\u3068\u307f\u306a\u3059\u7acb\u5834\u304c\u6709\u529b\u3060\u304c\u3001\u9577\u671f\u4e88\u5f8c\u306e\u30c7\u30fc\u30bf\u306f\u5341\u5206\u3067\u306f\u306a\u3044\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">C5\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u9ad8\u5024\u306e\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30a4\u30bd\u5409\u8349\u9178\u8840\u75c7\uff08<em>IVD<\/em>\u3001\u6025\u6027\u4ee3\u8b1d\u30af\u30ea\u30fc\u30bc\u3092\u8d77\u3053\u3057\u3046\u308b\uff09\u3068\u3001\u30d4\u30dc\u30ad\u30b7\u30eb\u57fa\u542b\u6709\u6297\u83cc\u85ac\u6295\u4e0e\u306b\u3088\u308b\u30d4\u30d0\u30ed\u30a4\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u306e\u6df7\u5165\u304c\u91cd\u8981\u3067\u3042\u308b\u3002\u5c3f\u6709\u6a5f\u9178\u5206\u6790\uff08\u30a4\u30bd\u30d0\u30ec\u30ea\u30eb\u30b0\u30ea\u30b7\u30f3\u30682-\u30e1\u30c1\u30eb\u30d6\u30c1\u30ea\u30eb\u30b0\u30ea\u30b7\u30f3\u306e\u533a\u5225\uff09\u3084\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u7570\u6027\u4f53\u306e\u5206\u96e2\u5206\u6790\u3067\u9451\u5225\u3059\u308b\u3002<strong>\u30a4\u30bd\u5409\u8349\u9178\u8840\u75c7\u3068\u306f\u7ba1\u7406\u65b9\u91dd\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u751f\u5316\u5b66\u7684\u30fb\u907a\u4f1d\u5b66\u7684\u306a\u78ba\u5b9a\u8a3a\u65ad\u306f\u3001\u904e\u5270\u306a\u6cbb\u7642\u3084\u3054\u5bb6\u65cf\u306e\u4e0d\u5fc5\u8981\u306a\u4e0d\u5b89\u3092\u907f\u3051\u308b\u3053\u3068\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u767a\u75c7\u3057\u3066\u3082\u591a\u304f\u306f\u75c7\u72b6\u304c\u306a\u3044\u307e\u307e\u6210\u9577\u3059\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<strong>\u3054\u5bb6\u65cf\u306e\u72b6\u6cc1\u306b\u5408\u308f\u305b\u305f\u898b\u901a\u3057\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u8aac\u660e\u3057\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u518d\u691c\u67fb\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u3002\u91cd\u3044\u75c5\u6c17\u306a\u306e\u3067\u3057\u3087\u3046\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u9ad8\u304f\u306a\u308b\u5024\uff08C5\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\uff09\u306f\u3001\u3053\u306e\u75c5\u6c17\u306e\u307b\u304b\u306b\u3001\u30a4\u30bd\u5409\u8349\u9178\u8840\u75c7\u3084\u4e00\u90e8\u306e\u6297\u83cc\u85ac\u306e\u5f71\u97ff\u3067\u3082\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/strong>\u307e\u305a\u306f\u7cbe\u5bc6\u691c\u67fb\u3067\u539f\u56e0\u3092\u78ba\u304b\u3081\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u3068\u8a3a\u65ad\u3055\u308c\u305f\u5834\u5408\u3001\u591a\u304f\u306f\u75c7\u72b6\u304c\u306a\u3044\u307e\u307e\u7d4c\u904e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u98df\u4e8b\u306e\u5236\u9650\u306f\u5fc5\u8981\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u901a\u5e38\u3001\u53b3\u3057\u3044\u98df\u4e8b\u5236\u9650\u306f\u5fc5\u8981\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u9577\u6642\u9593\u306e\u7a7a\u8179\u3092\u907f\u3051\u308b\u3053\u3068\u3001\u4f53\u8abf\u3092\u304f\u305a\u3057\u3066\u98df\u4e8b\u304c\u3068\u308c\u306a\u3044\u3068\u304d\u306b\u65e9\u3081\u306b\u53d7\u8a3a\u3059\u308b\u3053\u3068\u304c\u57fa\u672c\u3067\u3059\u3002\u5177\u4f53\u7684\u306a\u5bfe\u5fdc\u306f\u4e3b\u6cbb\u533b\u3068\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u691c\u67fb\u3067\u898b\u3064\u304b\u3063\u305f\u65b9\u306e\u591a\u304f\u3082\u3001\u75c7\u72b6\u306a\u304f\u904e\u3054\u3057\u3066\u3044\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u9577\u3044\u7d4c\u904e\u306b\u3064\u3044\u3066\u306e\u60c5\u5831\u306f\u307e\u3060\u5341\u5206\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u6c17\u306b\u306a\u308b\u75c7\u72b6\u304c\u3042\u308b\u3068\u304d\u306f\u4e3b\u6cbb\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Andresen BS, Christensen E, Corydon TJ, et al. Isolated 2-methylbutyrylglycinuria caused by short\/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. <em>Am J Hum Genet<\/em>. 2000;67(5):1095-1103.<\/li>\n\n\n\n<li>Gibson KM, Burlingame TG, Hogema B, et al. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. <em>Pediatr Res<\/em>. 2000;47(6):830-833.<\/li>\n\n\n\n<li>Alfardan J, Mohsen AW, Copeland S, et al. Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. <em>Mol Genet Metab<\/em>. 2010;100(4):333-338.<\/li>\n\n\n\n<li>OMIM #610006 2-Methylbutyrylglycinuria. Online Mendelian Inheritance in Man.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147531","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\/147531","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":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147531\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147531"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}