{"id":122018,"date":"2026-01-08T14:22:52","date_gmt":"2026-01-08T05:22:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122018"},"modified":"2026-03-03T16:04:03","modified_gmt":"2026-03-03T07:04:03","slug":"n-acetylglutamate-synthase-deficiency-nags","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/n-acetylglutamate-synthase-deficiency-nags\/","title":{"rendered":"N-\u30a2\u30bb\u30c1\u30eb\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u30b7\u30f3\u30bf\u30fc\u30bc\u6b20\u4e4f\u75c7\uff08NAGS\u95a2\u9023\uff09"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

N-\u30a2\u30bb\u30c1\u30eb\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u30b7\u30f3\u30bf\u30fc\u30bc\uff08NAGS\uff09\u6b20\u4e4f\u75c7\u306f\u3001\u5c3f\u7d20\u56de\u8def\u306e\u6700\u521d\u306e\u5f8b\u901f\u9175\u7d20\u3067\u3042\u308b\u30ab\u30eb\u30d0\u30e2\u30a4\u30eb\u30ea\u30f3\u9178\u5408\u6210\u9175\u7d20I\uff08CPS1\uff09\u3092\u6d3b\u6027\u5316\u3059\u308b\u88dc\u56e0\u5b50N-\u30a2\u30bb\u30c1\u30eb\u30b0\u30eb\u30bf\u30df\u30f3\u9178\uff08NAG\uff09\u306e\u7523\u751f\u969c\u5bb3\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u3001\u5e0c\u5c11\u306a\u5148\u5929\u6027\u5c3f\u7d20\u56de\u8def\u7570\u5e38\u75c7\u3067\u3059\u3002NAG\u306fCPS1\u306e\u5fc5\u9808\u30a2\u30ed\u30b9\u30c6\u30ea\u30c3\u30af\u6d3b\u6027\u5316\u56e0\u5b50\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u4e4f\u306b\u3088\u308a\u30a2\u30f3\u30e2\u30cb\u30a2\u306e\u89e3\u6bd2\u304c\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u8840\u4e2d\u30a2\u30f3\u30e2\u30cb\u30a2\u304c\u6025\u6fc0\u306b\u4e0a\u6607\u3057\u3001\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u306b\u3088\u308b\u610f\u8b58\u969c\u5bb3\u3001\u8133\u6d6e\u816b\u3001\u660f\u7761\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

\u672c\u75be\u60a3\u306f\u65b0\u751f\u5150\u671f\u767a\u75c7\u578b\u304b\u3089\u6210\u4eba\u767a\u75c7\u578b\u307e\u3067\u5e45\u5e83\u3044\u81e8\u5e8a\u50cf\u3092\u793a\u3057\u307e\u3059\u304c\u3001\u3044\u305a\u308c\u3082\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u767a\u4f5c\u304c\u751f\u547d\u4e88\u5f8c\u3092\u898f\u5b9a\u3057\u307e\u3059\u3002\u9069\u5207\u306a\u6cbb\u7642\u306b\u3088\u308a\u53ef\u9006\u7684\u3067\u3042\u308b\u70b9\u304c\u7279\u5fb4\u3067\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

\u5c3f\u7d20\u56de\u8def\u7570\u5e38\u75c7\u5168\u4f53\u306e\u983b\u5ea6\u306f\u7d043\u4e07\u51fa\u751f\u306b1\u4eba\u3068\u3055\u308c\u307e\u3059\u304c\u3001NAGS\u6b20\u4e4f\u75c7\u306f\u305d\u306e\u4e2d\u3067\u3082\u6700\u3082\u7a00\u306a\u578b\u306e\u4e00\u3064\u3067\u3001\u4e16\u754c\u7684\u306b\u6570\u5341\u4f8b\u301c100\u4f8b\u7a0b\u5ea6\u306e\u5831\u544a\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306fNAGS\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002NAGS\u907a\u4f1d\u5b50\u306f\u30d2\u30c817\u756a\u67d3\u8272\u4f53\uff0817q21\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u3067NAG\u3092\u5408\u6210\u3059\u308b\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002NAG\u304c\u6b20\u4e4f\u3059\u308b\u3068CPS1\u304c\u4e0d\u6d3b\u6027\u5316\u3055\u308c\u3001\u5c3f\u7d20\u56de\u8def\u5168\u4f53\u304c\u505c\u6b62\u3057\u30a2\u30f3\u30e2\u30cb\u30a2\u304c\u89e3\u6bd2\u3055\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h2>\n\n\n\n

\u65b0\u751f\u5150\u578b<\/strong><\/h3>\n\n\n\n
    \n
  • \u54fa\u4e73\u4e0d\u826f<\/li>\n\n\n\n
  • \u5614\u5410<\/li>\n\n\n\n
  • \u55dc\u7720<\/li>\n\n\n\n
  • \u547c\u5438\u4fc3\u8feb<\/li>\n\n\n\n
  • \u660f\u7761<\/li>\n<\/ul>\n\n\n\n

    \u5c0f\u5150\u30fb\u6210\u4eba\u578b<\/strong><\/h3>\n\n\n\n
      \n
    • \u53cd\u5fa9\u3059\u308b\u5614\u5410<\/li>\n\n\n\n
    • \u982d\u75db<\/li>\n\n\n\n
    • \u884c\u52d5\u5909\u5316<\/li>\n\n\n\n
    • \u610f\u8b58\u969c\u5bb3<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\uff08\u91cd\u5ea6\uff09<\/li>\n\n\n\n
      2. \u809d\u6a5f\u80fd\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u308b<\/li>\n\n\n\n
      3. \u8840\u4e2d\u30a2\u30df\u30ce\u9178\u30d1\u30bf\u30fc\u30f3\u3067\u5c3f\u7d20\u56de\u8def\u969c\u5bb3\u793a\u5506<\/li>\n\n\n\n
      4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08NAGS\u5909\u7570\u540c\u5b9a\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
          \n
        • \u30ab\u30eb\u30b0\u30eb\u30df\u30f3\u9178\uff08NAG\u30a2\u30ca\u30ed\u30b0\uff09\u6295\u4e0e\uff08\u7279\u52b9\u85ac\uff09<\/li>\n\n\n\n
        • \u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u6642\u306e\u7dca\u6025\u5bfe\u5fdc\uff08\u900f\u6790\uff09<\/li>\n\n\n\n
        • \u30bf\u30f3\u30d1\u30af\u5236\u9650<\/li>\n\n\n\n
        • \u611f\u67d3\u30fb\u98e2\u9913\u56de\u907f<\/li>\n<\/ul>\n\n\n\n

          \u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n

          N-\u30a2\u30bb\u30c1\u30eb\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u30b7\u30f3\u30bf\u30fc\u30bc\u6b20\u4e4f\u75c7 \u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)
          Caldovic L et al. NAGS deficiency: a treatable urea cycle disorder. Mol Genet Metab. 2010.(Nature)
          NAGS Deficiency \u2014 GeneReviews, PubMed Central.(PMC)
          N-acetylglutamate Synthase Deficiency \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122018","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\/122018","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122018\/revisions"}],"predecessor-version":[{"id":125276,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122018\/revisions\/125276"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122018"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}