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class=\"wp-block-paragraph\"><strong>A\u578b\u3067\u306f\u3001\u3064\u304f\u308c\u306a\u3044\u4e2d\u9593\u7269\u8cea\uff08cPMP\uff09\u3092\u70b9\u6ef4\u3067\u88dc\u3046\u6cbb\u7642\uff08\u30db\u30b9\u30c7\u30ce\u30d7\u30c6\u30ea\u30f3\uff09\u304c\u958b\u767a\u3055\u308c\u3001\u6d77\u5916\u3067\u306f\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u751f\u5f8c\u65e9\u3044\u6642\u671f\u306b\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u4e9c\u786b\u9178\u306a\u3069\u306e\u5024\u304c\u4e0b\u304c\u308a\u3001\u3051\u3044\u308c\u3093\u304c\u843d\u3061\u7740\u3044\u305f\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001<strong>\u3059\u3067\u306b\u8d77\u304d\u305f\u8133\u306e\u969c\u5bb3\u3092\u3082\u3068\u306b\u623b\u3059\u3053\u3068\u306f\u96e3\u3057\u304f\u3001\u52b9\u679c\u306f\u6cbb\u7642\u3092\u59cb\u3081\u308b\u6642\u671f\u306b\u5927\u304d\u304f\u5de6\u53f3\u3055\u308c\u307e\u3059<\/strong>\u3002\u307e\u305f\u3001\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u7d9a\u3051\u308b\u5fc5\u8981\u304c\u3042\u308a\u3001\u56fd\u3084\u5730\u57df\u306b\u3088\u3063\u3066\u4f7f\u3048\u308b\u72b6\u6cc1\u304c\u7570\u306a\u308a\u307e\u3059\u3002<strong>B\u578b\u30fbC\u578b\u306b\u306f\u52b9\u679c\u304c\u671f\u5f85\u3067\u304d\u306a\u3044\u6cbb\u7642\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>cPMP\u88dc\u5145\u7642\u6cd5<\/strong>\uff1aA\u578b\u3068\u78ba\u5b9a\uff08\u307e\u305f\u306f\u5f37\u304f\u7591\u308f\u308c\u305f\uff09\u65e9\u671f\u306b\u691c\u8a0e\u3055\u308c\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3051\u3044\u308c\u3093\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u6297\u3066\u3093\u304b\u3093\u85ac\u306a\u3069\u3067\u75c7\u72b6\u3092\u3084\u308f\u3089\u3052\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6804\u990a\u3068\u98df\u4e8b\u306e\u5de5\u592b<\/strong>\uff1a\u7d4c\u7ba1\u6804\u990a\u3084\u3001\u542b\u786b\u30a2\u30df\u30ce\u9178\u3092\u63a7\u3048\u305f\u98df\u4e8b\u304c\u8a66\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u7642\u80b2<\/strong>\uff1a\u59ff\u52e2\u30fb\u547c\u5438\u30fb\u767a\u9054\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4<\/strong>\uff1a\u5728\u5b85\u3067\u306e\u533b\u7642\u7684\u30b1\u30a2\u3092\u542b\u3081\u3001\u7d99\u7d9a\u7684\u306a\u652f\u3048\u304c\u5fc5\u8981\u3067\u3059<\/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>MOCS1<\/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>MOCS1<\/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\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\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>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\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>MOCS1<\/strong> \u306f\u4e8c\u3064\u306e\u8aad\u307f\u67a0\u3092\u3082\u3064\u907a\u4f1d\u5b50\u3067\u3001\u30e9\u30b8\u30ab\u30ebSAM\u9175\u7d20 MOCS1A \u3068 MOCS1B \u3092\u7523\u751f\u3057\u3001<strong>GTP \u304b\u3089\u74b0\u72b6\u30d4\u30e9\u30ce\u30d7\u30c6\u30ea\u30f3\u4e00\u30ea\u30f3\u9178\uff08cPMP\uff09\u3078\u306e\u5909\u63db<\/strong>\u3068\u3044\u3046\u30e2\u30ea\u30d6\u30c7\u30f3\u88dc\u9175\u7d20\uff08MoCo\uff09\u751f\u5408\u6210\u306e\u7b2c\u4e00\u6bb5\u968e\u3092\u62c5\u3046\u3002MoCo \u306f<strong>\u4e9c\u786b\u9178\u9178\u5316\u9175\u7d20\u3001\u30ad\u30b5\u30f3\u30c1\u30f3\u8131\u6c34\u7d20\u9175\u7d20\u3001\u30a2\u30eb\u30c7\u30d2\u30c9\u9178\u5316\u9175\u7d20\u3001mARC<\/strong>\u306e\u6d3b\u6027\u306b\u5fc5\u9808\u3067\u3042\u308a\u3001\u795e\u7d4c\u969c\u5bb3\u306e\u4e3b\u56e0\u306f\u4e9c\u786b\u9178\u9178\u5316\u9175\u7d20\u6b20\u640d\u306b\u3088\u308b\u4e9c\u786b\u9178\u30fbS-\u30b9\u30eb\u30db\u30b7\u30b9\u30c6\u30a4\u30f3\u306e\u84c4\u7a4d\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u76f8\u88dc\u7fa4\u306b\u3088\u308b\u5206\u985e<\/strong>\u2014\u2014A\u578b\uff08<em>MOCS1<\/em>\u3001cPMP \u5408\u6210\u969c\u5bb3\uff09\u3001B\u578b\uff08<em>MOCS2<\/em>\u30fb<em>MOCS3<\/em>\u3001cPMP \u304b\u3089\u30e2\u30ea\u30d6\u30c9\u30d7\u30c6\u30ea\u30f3\u3078\u306e\u5909\u63db\u969c\u5bb3\uff09\u3001C\u578b\uff08<em>GPHN<\/em>\u3001\u30e2\u30ea\u30d6\u30c7\u30f3\u633f\u5165\u969c\u5bb3\uff09\u3002\u81e8\u5e8a\u50cf\u306f\u307b\u307c\u5171\u901a\u3060\u304c\u3001<strong>A\u578b\u306e\u307f cPMP \u306e\u5916\u56e0\u6027\u88dc\u5145\uff08\u30db\u30b9\u30c7\u30ce\u30d7\u30c6\u30ea\u30f3\uff09\u304c\u4e0b\u6d41\u7d4c\u8def\u3092\u56de\u5fa9\u3055\u305b\u3046\u308b<\/strong>\u3002\u524d\u5411\u304d\u30b3\u30db\u30fc\u30c8\u7814\u7a76\u3067\u306f\u3001\u65e9\u671f\u958b\u59cb\u4f8b\u3067\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\u306e\u6b63\u5e38\u5316\u3068\u795e\u7d4c\u5b66\u7684\u8ee2\u5e30\u306e\u6539\u5584\u304c\u793a\u3055\u308c\u305f\u4e00\u65b9\u3001<strong>\u767a\u75c7\u5f8c\u306e\u958b\u59cb\u4f8b\u3067\u306f\u65e2\u5b58\u306e\u8133\u969c\u5bb3\u306f\u6539\u5584\u3057\u306a\u3044<\/strong>\u3002\u81ea\u7136\u6b74\u306e\u89e3\u6790\u3067\u306f\u751f\u5b58\u671f\u9593\u306e\u4e2d\u592e\u5024\u306f\u6570\u5e74\u7a0b\u5ea6\u3068\u5831\u544a\u3055\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u5b64\u767a\u6027\u4e9c\u786b\u9178\u9178\u5316\u9175\u7d20\u6b20\u640d\u75c7\uff08<em>SUOX<\/em>\u3001\u5c3f\u9178\u306f\u6b63\u5e38\uff09\u3001\u4f4e\u9178\u7d20\u6027\u865a\u8840\u6027\u8133\u75c7\u3001\u30d4\u30ea\u30c9\u30ad\u30b7\u30f3\u4f9d\u5b58\u6027\u3066\u3093\u304b\u3093\u3001\u975e\u30b1\u30c8\u30fc\u30b7\u30b9\u578b\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7\u306a\u3069\u304c\u6319\u304c\u308b\u3002<strong>\u5c3f\u9178\u4f4e\u5024\u306f MoCD \u3068\u5b64\u767a\u6027\u4e9c\u786b\u9178\u9178\u5316\u9175\u7d20\u6b20\u640d\u75c7\u3092\u5206\u3051\u308b\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u3001\u3055\u3089\u306b\u578b\u306e\u78ba\u5b9a\u306f\u6cbb\u7642\u9069\u5fdc\u306b\u76f4\u7d50\u3059\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u3092\u901f\u3084\u304b\u306b\u884c\u3046\u610f\u7fa9\u304c\u5927\u304d\u3044\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>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308c\u3070\u3001\u6b21\u306e\u598a\u5a20\u3067\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u591a\u304f\u306e\u5834\u5408\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u76ee\u7acb\u3063\u305f\u5909\u5316\u304c\u306a\u304f\u3001\u751f\u307e\u308c\u3066\u304b\u3089\u306e\u3051\u3044\u308c\u3093\u3067\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/strong>\u305d\u306e\u305f\u3081\u3001\u3054\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306a\u3069\u306f\u3001\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u691c\u67fb\u304c\u898b\u901a\u3057\u3092\u77e5\u308b\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. B\u578b\u3084C\u578b\u3068\u306f\u4f55\u304c\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u75c7\u72b6\u306f\u3088\u304f\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3068\u3001\u88dc\u9175\u7d20\u3065\u304f\u308a\u306e\u6b62\u307e\u308b\u6bb5\u968e\u304c\u9055\u3044\u307e\u3059\u3002<strong>A\u578b\u306f\u6700\u521d\u306e\u6bb5\u968e\u304c\u6b62\u307e\u308b\u578b\u3067\u3001\u305d\u306e\u6bb5\u968e\u3067\u3064\u304f\u3089\u308c\u308b\u7269\u8cea\u3092\u88dc\u3046\u6cbb\u7642\u304c\u958b\u767a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>B\u578b\u30fbC\u578b\u306b\u306f\u3053\u306e\u6cbb\u7642\u306e\u52b9\u679c\u306f\u671f\u5f85\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u578b\u3092\u78ba\u304b\u3081\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6cbb\u7642\u3092\u3059\u308c\u3070\u666e\u901a\u306b\u80b2\u3061\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u751f\u5f8c\u65e9\u304f\u306b\u6cbb\u7642\u3092\u59cb\u3081\u3089\u308c\u305f\u304a\u5b50\u3055\u307e\u3067\u306f\u3001\u3051\u3044\u308c\u3093\u304c\u843d\u3061\u7740\u304d\u3001\u767a\u9054\u304c\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u305f\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u3059\u3067\u306b\u8d77\u304d\u305f\u8133\u306e\u969c\u5bb3\u3092\u623b\u3059\u3053\u3068\u306f\u96e3\u3057\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u751f\u307e\u308c\u308b\u524d\u304b\u3089\u75c5\u6c17\u306e\u53ef\u80fd\u6027\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u3068\u3001\u65e9\u304f\u6cbb\u7642\u3092\u59cb\u3081\u308b\u6e96\u5099\u304c\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\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>Reiss J, Cohen N, Dorche C, et al. Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. <em>Nat Genet<\/em>. 1998;20(1):51-53.<\/li>\n\n\n\n<li>Veldman A, Santamaria-Araujo JA, Sollazzo S, et al. Successful treatment of molybdenum cofactor deficiency type A with cPMP. <em>Pediatrics<\/em>. 2010;125(5):e1249-e1254.<\/li>\n\n\n\n<li>Schwahn BC, Van Spronsen FJ, Belaidi AA, et al. Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. <em>Lancet<\/em>. 2015;386(10007):1955-1963.<\/li>\n\n\n\n<li>Mechler K, Mountford WK, Hoffmann GF, Ries M. Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. <em>Genet Med<\/em>. 2015;17(12):965-970.<\/li>\n\n\n\n<li>OMIM #252150 Molybdenum cofactor deficiency, complementation group A. 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-147440","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\/147440","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\/147440\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147440"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}