{"id":121708,"date":"2026-01-07T16:15:34","date_gmt":"2026-01-07T07:15:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=121708"},"modified":"2026-05-08T12:55:23","modified_gmt":"2026-05-08T03:55:23","slug":"citrullinemia-type-1-ass1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/citrullinemia-type-1-ass1\/","title":{"rendered":"\u30d2\u30c8\u30a2\u30eb\u30ae\u30cb\u30ce\u30b9\u30af\u30b7\u30cd\u30fc\u30c8\u30b7\u30f3\u30c6\u30bf\u30fc\u30bc\u6b20\u640d\u75c7"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"\u6982\u8981\">\u6982\u8981<\/h2>\n\n\n\n<p>\u30d2\u30c8\u30a2\u30eb\u30ae\u30cb\u30ce\u30b9\u30af\u30b7\u30cd\u30fc\u30c8\u30b7\u30f3\u30c6\u30bf\u30fc\u30bc\u6b20\u640d\u75c7\u306f\u3001\u5c3f\u7d20\u56de\u8def\u306e\u69cb\u6210\u9175\u7d20\u3067\u3042\u308b\u30a2\u30eb\u30ae\u30cb\u30ce\u30b9\u30af\u30b7\u30cd\u30fc\u30c8\u30b7\u30f3\u30c6\u30bf\u30fc\u30bc\uff08argininosuccinate synthetase; ASS\uff09\u306e\u6b20\u640d\u307e\u305f\u306f\u6d3b\u6027\u4f4e\u4e0b\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002\u672c\u9175\u7d20\u306e\u6a5f\u80fd\u969c\u5bb3\u306b\u3088\u308a\u30a2\u30f3\u30e2\u30cb\u30a2\u3092\u5c3f\u7d20\u3068\u3057\u3066\u89e3\u6bd2\u30fb\u6392\u6cc4\u3059\u308b\u7d4c\u8def\u304c\u906e\u65ad\u3055\u308c\u3001\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u3092\u5448\u3057\u3001\u4e2d\u67a2\u795e\u7d4c\u7cfb\u3092\u4e2d\u5fc3\u306b\u91cd\u7be4\u306a\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u91cd\u75c7\u65b0\u751f\u5150\u767a\u75c7\u578b\u304b\u3089\u8efd\u75c7\u9045\u767a\u578b\u307e\u3067\u81e8\u5e8a\u7684\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u304c\u5e83\u304f\u3001\u540c\u4e00\u907a\u4f1d\u5b50\u5909\u7570\u3067\u3042\u3063\u3066\u3082\u767a\u75c7\u6642\u671f\u30fb\u91cd\u75c7\u5ea6\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"\u75ab\u5b66\">\u75ab\u5b66<\/h2>\n\n\n\n<p>\u4e16\u754c\u7684\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u767a\u751f\u983b\u5ea6\u306f\u51fa\u751f\u7d041\/50,000\u301c1\/100,000\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e5\u672c\u3092\u542b\u3080\u4e16\u754c\u5404\u5730\u3067\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u7537\u5973\u5dee\u306f\u8a8d\u3081\u3089\u308c\u307e\u305b\u3093\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u5c0e\u5165\u306b\u3088\u308a\u3001\u7121\u75c7\u5019\u671f\u306b\u8a3a\u65ad\u3055\u308c\u308b\u75c7\u4f8b\u3082\u5897\u52a0\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"\u539f\u56e0\">\u539f\u56e0<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h3>\n\n\n\n<p>\u672c\u75be\u60a3\u306f <strong>ASS1\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570<\/strong> \u306b\u3088\u308a\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002ASS1\u907a\u4f1d\u5b50\u306f9\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff089q34.1\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30a2\u30eb\u30ae\u30cb\u30ce\u30b9\u30af\u30b7\u30cd\u30fc\u30c8\u30b7\u30f3\u30c6\u30bf\u30fc\u30bc\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<br><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u9175\u7d20\u6a5f\u80fd<\/strong><\/h3>\n\n\n\n<p>\u672c\u9175\u7d20\u306f\u5c3f\u7d20\u56de\u8def\u306e\u7b2c3\u6bb5\u968e\u3092\u62c5\u3044\u3001\u30b7\u30c8\u30eb\u30ea\u30f3\u3068\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u9178\u304b\u3089\u30a2\u30eb\u30ae\u30cb\u30ce\u30b9\u30af\u30b7\u30cd\u30fc\u30c8\u3092\u5408\u6210\u3057\u307e\u3059\u3002\u3053\u306e\u53cd\u5fdc\u304c\u969c\u5bb3\u3055\u308c\u308b\u3053\u3068\u3067\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30f3\u30e2\u30cb\u30a2\u306e\u89e3\u6bd2\u304c\u505c\u6b62<\/li>\n\n\n\n<li>\u8840\u4e2d\u30a2\u30f3\u30e2\u30cb\u30a2\u304a\u3088\u3073\u30b7\u30c8\u30eb\u30ea\u30f3\u304c\u84c4\u7a4d<\/li>\n\n\n\n<li>\u795e\u7d4c\u6bd2\u6027\u306b\u3088\u308b\u8133\u6d6e\u816b\u30fb\u610f\u8b58\u969c\u5bb3\u304c\u751f\u3058\u308b<\/li>\n<\/ul>\n\n\n\n<p>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/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>\u767a\u75c7\u6642\u671f\u3068\u81e8\u5e8a\u50cf<\/strong><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u65b0\u751f\u5150\u767a\u75c7\u578b\uff08\u91cd\u75c7\u578b\uff09<\/strong><\/h4>\n\n\n\n<p>\u751f\u5f8c\u6570\u65e5\u4ee5\u5185\u306b\u4ee5\u4e0b\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u4e0d\u826f\u3001\u5614\u5410<\/li>\n\n\n\n<li>\u55dc\u7720\u3001\u4f4e\u4f53\u6e29\u3001\u547c\u5438\u969c\u5bb3<\/li>\n\n\n\n<li>\u3051\u3044\u308c\u3093\u3001\u610f\u8b58\u969c\u5bb3\u3001\u660f\u7761<\/li>\n<\/ul>\n\n\n\n<p>\u8fc5\u901f\u306a\u6cbb\u7642\u304c\u884c\u308f\u308c\u306a\u3044\u5834\u5408\u3001\u81f4\u6b7b\u7684\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u9045\u767a\u578b\u30fb\u8efd\u75c7\u578b<\/strong><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u969c\u5bb3<\/li>\n\n\n\n<li>\u767a\u9054\u9045\u6ede\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a><\/li>\n\n\n\n<li>\u884c\u52d5\u7570\u5e38\u3001\u6613\u523a\u6fc0\u6027<\/li>\n\n\n\n<li>\u7e70\u308a\u8fd4\u3059\u982d\u75db\u30fb\u5614\u5410\u30fb\u610f\u8b58\u5909\u5bb9<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u81d3\u5668\u5225\u969c\u5bb3<\/strong><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e2d\u67a2\u795e\u7d4c\u7cfb\uff1a\u610f\u8b58\u969c\u5bb3\u3001\u8133\u6d6e\u816b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/li>\n\n\n\n<li>\u6d88\u5316\u5668\uff1a\u5614\u5410\u3001\u98df\u6b32\u4e0d\u632f<\/li>\n\n\n\n<li>\u7cbe\u795e\u795e\u7d4c\uff1a\u60c5\u7dd2\u4e0d\u5b89\u5b9a\u3001\u932f\u4e71\u3001\u7cbe\u795e\u75c7\u72b6<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>1. \u751f\u5316\u5b66\u7684\u8a3a\u65ad<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u4e2d\u30a2\u30f3\u30e2\u30cb\u30a2\u9ad8\u5024<\/li>\n\n\n\n<li>\u8840\u4e2d\u30b7\u30c8\u30eb\u30ea\u30f3\u9ad8\u5024<\/li>\n\n\n\n<li>\u5c3f\u4e2d\u30aa\u30ed\u30c8\u9178\u4f4e\u5024\uff08OTC\u6b20\u640d\u75c7\u3068\u306e\u9451\u5225\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>2. \u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/strong><\/h3>\n\n\n\n<p>\u8840\u4e2d\u30a2\u30df\u30ce\u9178\u5206\u6790\u306b\u3088\u308a\u9ad8\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c7\u3068\u3057\u3066\u62fe\u3044\u4e0a\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>3. \u907a\u4f1d\u5b50\u8a3a\u65ad<\/strong><\/h3>\n\n\n\n<p><strong>ASS1\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad<\/strong>\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u5bb6\u65cf\u5185\u4fdd\u56e0\u8005\u8a3a\u65ad\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u691c\u8a0e\u306b\u3082\u6709\u7528\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<p>\u6839\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001<strong>\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u306e\u4e88\u9632\u3068\u6025\u6027\u767a\u4f5c\u306e\u7ba1\u7406<\/strong>\u304c\u6cbb\u7642\u306e\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u6162\u6027\u671f\u7ba1\u7406<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u30bf\u30f3\u30d1\u30af\u98df<\/li>\n\n\n\n<li>\u7a92\u7d20\u6355\u6349\u85ac\uff08\u30d5\u30a7\u30cb\u30eb\u916a\u9178\u30ca\u30c8\u30ea\u30a6\u30e0\u3001\u5b89\u606f\u9999\u9178\u30ca\u30c8\u30ea\u30a6\u30e0\uff09<\/li>\n\n\n\n<li>\u30a2\u30eb\u30ae\u30cb\u30f3\u88dc\u5145<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u6025\u6027\u671f\u6cbb\u7642<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7dca\u6025\u900f\u6790\u306b\u3088\u308b\u30a2\u30f3\u30e2\u30cb\u30a2\u9664\u53bb<\/li>\n\n\n\n<li>\u9ad8\u30ab\u30ed\u30ea\u30fc\u8f38\u6db2\u306b\u3088\u308b\u7570\u5316\u6291\u5236<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u6839\u6cbb\u7684\u6cbb\u7642<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u91cd\u75c7\u4f8b\u3067\u306f\u809d\u79fb\u690d\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 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