{"id":60110,"date":"2023-08-24T10:37:54","date_gmt":"2023-08-24T01:37:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60110"},"modified":"2026-05-07T10:04:19","modified_gmt":"2026-05-07T01:04:19","slug":"argininosuccinate-lyase-deficiency","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/argininosuccinate-lyase-deficiency\/","title":{"rendered":"\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u30ea\u30a2\u30fc\u30bc\u6b20\u4e4f\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\" id=\"\u6982\u8981\">\u6982\u8981<\/h2>\n\n\n\n<p>\u5c3f\u7d20\u30b5\u30a4\u30af\u30eb\u306e\u4e09\u6bb5\u968e\u76ee\u306e\u9175\u7d20\u304c\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u5408\u6210\u9175\u7d20(ASS)\u3067\u3042\u308a\u3001\u30b7\u30c8\u30eb\u30ea\u30f3\u3068\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u9178\u304b\u3089\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u3092\u5408\u6210\u3057\u307e\u3059\u3002ASS\u6b20\u640d\u75c7\u3067\u306f\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u3068\u3068\u3082\u306b\u3001\u8840\u4e2d\u30b7\u30c8\u30eb\u30ea\u30f3\u304c\u9ad8\u5024\u3068\u306a\u308b\u305f\u3081\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c7I\u578b(CTLN1)\u3068\u3082\u547c\u79f0\u3055\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>53\u4e07\u4eba\u306b1\u4eba\u3068\u306e\u5831\u544a\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"\u539f\u56e0\">\u539f\u56e0<\/h2>\n\n\n\n<p>ASS\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u306b\u8d77\u56e0\u3057\u307e\u3059\u3002\u65e5\u672c\u4eba\u75c7\u4f8b\u3067\u306fIVS6-2A&gt;G\u3001c.910C&gt;T (p.R304W)\u5909\u7570\u306e\u983b\u5ea6\u304c\u9ad8\u3044\u3067\u3059\u3002\u8840\u4e2d\u30b7\u30c8\u30eb\u30ea\u30f3\u304c\u9ad8\u5024\u3067\u3042\u308b\u3053\u3068\u304c\u7279\u5fb4\u7684\u3067\u3059\u304c\u3001\u30b7\u30c8\u30eb\u30ea\u30f3\u81ea\u4f53\u306e\u81e8\u5e8a\u75c7\u72b6\u3078\u306e\u95a2\u4e0e\u306f\u5c0f\u3055\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<!-- CTA Button\n\n<figure class=\"cta-btn\">\n<div class=\"cta-img\">\n<img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2023\/02\/button_pc.png\" alt=\"\u539f\u56e0\">\n<\/div>\n<div class=\"button-1\">\n<img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2023\/03\/cta-btn-orng-1.png\">\n<img decoding=\"async\" class=\"button-2\" src=\"\/nipt\/wp-content\/uploads\/2023\/02\/cta-btn-down.png\" alt=\"blue-btn\">\n<\/div>\n<\/figure>\n-->\n<style>\n.cta-btn {\n  display: flex;\n  flex-direction: column;\n  align-items: center;\n}\n\n.cta-img {\n  width: 400px;\n  height: auto;\n  padding-top: 3em;\n}\n\n.button-1 {\n  display: flex;\n  flex-direction: column;\n  position: absolute;\n  margin-top: 215px;\n  width: 340px;\n  height: auto;\n}\n\n.button-2 {\n  width: 450px;\n  height: auto;\n}\n<\/style>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"\u75c7\u72b6\">\u75c7\u72b6<\/h2>\n\n\n\n<p>\u65b0\u751f\u5150\u4f8b\u306f\u8208\u596e\u6027\u4ea2\u9032\u3001\u55dc\u7720\u3001\u54fa\u4e73\u4e0d\u826f\u3001\u591a\u547c\u5438\u3001\u5614\u5410\u306a\u3069\u304c\u751f\u5f8c\u6570\u65e5\u4ee5\u5185\u306b\u51fa\u73fe\u3057\u3001\u3051\u3044\u308c\u3093\u3001\u5f8c\u5f13\u53cd\u5f35\u3001\u660f\u7761\u306a\u3069\u3092\u304d\u305f\u3057\u307e\u3059\u3002\u5c0f\u5150\u671f\u4f8b\u3067\u306f\u53cd\u5fa9\u6027\u5614\u5410\u3001\u3051\u3044\u308c\u3093\u306a\u3069\u3092\u5448\u3057\u307e\u3059\u3002\u5973\u6027\u6210\u4eba\u4f8b\u306b\u304a\u3044\u3066\u306f\u3001\u598a\u5a20\u4e2d\u3042\u308b\u3044\u306f\u5206\u5a29\u5f8c\u306b\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u306b\u3088\u308b\u610f\u8b58\u969c\u5bb3\u3067\u767a\u75c7\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u62e1\u5927\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u5bfe\u8c61\u75be\u60a3\u3067\u3042\u308a\u3001\u8fd1\u5e74\u3067\u306f\u6975\u8efd\u75c7\u4f8b\uff08\u8840\u4e2d\u30b7\u30c8\u30eb\u30ea\u30f3\u306e\u4e0a\u6607\u304c\u6975\u8efd\u5ea6\u3067\u3042\u308a\u3001\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u3092\u8a8d\u3081\u306a\u3044\uff09\u3082\u767a\u898b\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"\u8a3a\u65ad\">\u8a3a\u65ad<\/h2>\n\n\n\n<p>(1)\u81e8\u5e8a\u75c7\u72b6\u30fb\u5bb6\u65cf\u6b74<br>\n\u2460\u5614\u6c17\u3001\u5614\u5410\u3001\u610f\u8b58\u969c\u5bb3\u3001\u75d9\u6523\u306a\u3069\u975e\u7279\u7570\u7684\u306a\u81e8\u5e8a\u75c7\u72b6<br>\n\u2461\u65b0\u751f\u5150\u671f\u306b\u304a\u3051\u308b\u540c\u80de\u306e\u7a81\u7136\u6b7b<br>\n<br>\n(2)\u691c\u67fb\u30c7\u30fc\u30bf<br>\n\u2460\u8840\u4e2d\u30a2\u30f3\u30e2\u30cb\u30a2\u9ad8\u5024\u3001\u65b0\u751f\u5150&gt;120 \u03bcmol\/L(200 \u03bcg\/dL)\u3001\u4e73\u5150\u671f\u4ee5\u964d&gt;60 \u03bcmol\/L(100 \u03bcg\/dL)\u4ee5\u4e0a<br>\n\u2461\u30a2\u30cb\u30aa\u30f3\u30ae\u30e3\u30c3\u30d7\uff1a\u6b63\u5e38\uff08&lt;20)<br>\n\u2462\u8840\u7cd6\uff1a\u6b63\u5e38\u7bc4\u56f2\uff08\u65b0\u751f\u5150\u671f&gt;40 mg\/dL)<br>\n<br>\n(3)\u7279\u7570\u7684\u691c\u67fb<br>\n\u2460\u8840\u4e2d\u30a2\u30df\u30ce\u9178\u5206\u6790(\u30b7\u30c8\u30eb\u30ea\u30f3\u9ad8\u5024\u3001\u30a2\u30eb\u30ae\u30cb\u30f3\u4f4e\u5024)\u3001\u5c3f\u30a2\u30df\u30ce\u9178\u5206\u6790\uff08\u30b7\u30c8\u30eb\u30ea\u30f3\u6392\u6cc4\u5897\u52a0\u3002\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u306f\u8a8d\u3081\u3089\u308c\u306a\u3044*\uff09\u3001\u5c3f\u6709\u6a5f\u9178\u5206\u6790\uff08\u30aa\u30ed\u30c8\u9178\u6392\u6cc4\u5897\u52a0\uff09<br>\n\u2461\u9175\u7d20\u6d3b\u6027\u3042\u308b\u3044\u306f\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u304a\u3051\u308b\u7570\u5e38(1)\u306e\u3046\u30611\u9805\u76ee\u304b\u3064(2)\u306e\u2460\u3092\u542b\u3081\u305f2\u9805\u76ee\u4ee5\u4e0a\u3092\u6e80\u305f\u3059\u5834\u5408\u3001\u5c3f\u7d20\u30b5\u30a4\u30af\u30eb\u7570\u5e38\u75c7\u304c\u7591\u308f\u308c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306e\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002\u8a3a\u65ad\u306e\u6839\u62e0\u3068\u306a\u308b(3)\u2460\u3082\u3057\u304f\u306f\u2461\u3092\u8a8d\u3081\u308b\u3068\u304dASS\u6b20\u640d\u75c7\u3068\u78ba\u5b9a\u8a3a\u65ad\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"\u6cbb\u7642\">\u6cbb\u7642<\/h2>\n\n\n\n<p>\u4ee3\u8b1d\u7570\u5e38\u6642\u306e\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u306e\u8fc5\u901f\u306a\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3068,\u3001\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u306e\u518d\u767a\u304a\u3088\u3073\u9577\u671f\u5408\u4f75\u75c7\u3092\u4e88\u9632\u3059\u308b\u305f\u3081\u306e\u9577\u671f\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<br>\u6025\u6027\u306e\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u30a8\u30d4\u30bd\u30fc\u30c9\u3067\u306f\u3001\u7d4c\u53e3\u30bf\u30f3\u30d1\u30af\u8cea\u6442\u53d6\u3092\u4e2d\u6b62\u3057\u3001\u7d4c\u53e3\u6442\u53d6\u306b\u8102\u8cea\u304a\u3088\u3073\/\u307e\u305f\u306f\u30d6\u30c9\u30a6\u7cd6\u306e\u9759\u8108\u5185\u6295\u4e0e\u3092\u88dc\u5145\u3057, \u7a92\u7d20\u6355\u6349\u7642\u6cd5\u3092\u9759\u8108\u5185\u6295\u4e0e\u3067\u884c\u3044\u307e\u3059\u3002<br>\u30a2\u30f3\u30e2\u30cb\u30a2\u30ec\u30d9\u30eb\u304c\u6b63\u5e38\u5316\u3057\u306a\u3044\u5834\u5408\u306f\u3001\u8840\u6db2\u900f\u6790\u304c\u6b21\u306e\u30b9\u30c6\u30c3\u30d7\u3068\u306a\u308a\u307e\u3059\u3002<br>\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u98df\u4e8b\u5236\u9650\u3068\u30a2\u30eb\u30ae\u30cb\u30f3\u306e\u98df\u4e8b\u88dc\u7d66\u304c\u9577\u671f\u7ba1\u7406\u306e\u67f1\u3067\u3042\u308b\u3053\u308c\u3089\u306e\u63aa\u7f6e\u306b\u53cd\u5fdc\u3057\u306a\u3044\u60a3\u8005\u306b\u306f\u3001\u7d4c\u53e3\u7a92\u7d20\u9664\u53bb\u7642\u6cd5\u3092\u8003\u616e\u3057\u307e\u3059\u3002<br>\u540c\u6240\u7684\u809d\u79fb\u690d(OLT)\u306f\u3001\u5f93\u6765\u306e\u5185\u79d1\u7684\u6cbb\u7642\u306b\u62b5\u6297\u6027\u306e\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u306e\u518d\u767a\u307e\u305f\u306f\u4ee3\u8b1d\u6027\u60aa\u5316\u306e\u3042\u308b\u60a3\u8005\u306b\u304a\u3044\u3066\u306e\u307f\u691c\u8a0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<!--<h2 id=\"\u4e88\u5f8c\">\u4e88\u5f8c<\/h2>-->\n\n\n\n<!--<p>\u751f\u5f8c1\u5e74\u4ee5\u5185\u306e\u6b7b\u4ea1\u304c\u4e00\u822c\u7684\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<p>\u3010\u53c2\u8003\u6587\u732e\u3011<\/p>\n\n\n\n<p>\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc &#8211; <a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4732\">\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u30ea\u30a2\u30fc\u30bc\u6b20\u4e4f\u75c7<\/a><\/p>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60110","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\/60110","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":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60110\/revisions"}],"predecessor-version":[{"id":128015,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60110\/revisions\/128015"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60110"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}