{"id":122132,"date":"2026-01-08T18:29:49","date_gmt":"2026-01-08T09:29:49","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122132"},"modified":"2026-01-08T18:29:50","modified_gmt":"2026-01-08T09:29:50","slug":"ornithine-transcarbamylase-deficiency-otc","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-transcarbamylase-deficiency-otc\/","title":{"rendered":"\u30aa\u30eb\u30cb\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30ab\u30eb\u30d0\u30df\u30e9\u30fc\u30bc\u6b20\u640d\u75c7"},"content":{"rendered":"\n

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

\u30aa\u30eb\u30cb\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30ab\u30eb\u30d0\u30df\u30e9\u30fc\u30bc\u6b20\u640d\u75c7\uff08OTC\u6b20\u640d\u75c7\uff09\u306f\u3001\u5c3f\u7d20\u56de\u8def\u306e\u7b2c2\u6bb5\u968e\u3092\u62c5\u3046\u9175\u7d20\u30aa\u30eb\u30cb\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30ab\u30eb\u30d0\u30df\u30e9\u30fc\u30bc\u306e\u6d3b\u6027\u4f4e\u4e0b\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002\u5c3f\u7d20\u56de\u8def\u306f\u4f53\u5185\u3067\u7523\u751f\u3055\u308c\u305f\u30a2\u30f3\u30e2\u30cb\u30a2\u3092\u5c3f\u7d20\u3078\u3068\u5909\u63db\u3057\u3066\u6392\u6cc4\u3059\u308b\u91cd\u8981\u306a\u89e3\u6bd2\u7d4c\u8def\u3067\u3042\u308a\u3001\u3053\u306e\u7d4c\u8def\u304c\u969c\u5bb3\u3055\u308c\u308b\u3068\u30a2\u30f3\u30e2\u30cb\u30a2\u304c\u8840\u4e2d\u306b\u84c4\u7a4d\u3057\u3066\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u3092\u6765\u3057\u307e\u3059\u3002\u30a2\u30f3\u30e2\u30cb\u30a2\u306f\u795e\u7d4c\u6bd2\u6027\u3092\u6709\u3059\u308b\u305f\u3081\u3001\u610f\u8b58\u969c\u5bb3\u3001\u8133\u6d6e\u816b\u3001\u3051\u3044\u308c\u3093\u306a\u3069\u306e\u91cd\u7be4\u306a\u795e\u7d4c\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

OTC\u6b20\u640d\u75c7\u306f\u5c3f\u7d20\u56de\u8def\u7570\u5e38\u75c7\u306e\u4e2d\u3067\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u91cd\u75c7\u65b0\u751f\u5150\u578b\u304b\u3089\u8efd\u75c7\u9045\u767a\u578b\u307e\u3067\u5e45\u5e83\u3044\u81e8\u5e8a\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3092\u793a\u3057\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

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

OTC\u6b20\u640d\u75c7\u306e\u6709\u75c5\u7387\u306f\u51fa\u751f\u7d044\u4e07\u301c7\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5c3f\u7d20\u56de\u8def\u7570\u5e38\u75c7\u306e\u4e2d\u3067\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044\u75be\u60a3\u3067\u3059\u3002(Orphanet)<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306fOTC\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3057\u307e\u3059\u3002OTC\u907a\u4f1d\u5b50\u306fX\u67d3\u8272\u4f53\u77ed\u8155\uff08Xp21\uff09\u306b\u4f4d\u7f6e\u3057\u3066\u304a\u308a\u3001\u672c\u75be\u60a3\u306fX\u9023\u9396\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u7537\u6027\u3067\u306f\u91cd\u75c7\u4f8b\u304c\u591a\u304f\u3001\u5973\u6027\u3067\u306f\u4fdd\u56e0\u8005\u3068\u3057\u3066\u8efd\u75c7\u4f8b\u3084\u7121\u75c7\u5019\u4f8b\u3082\u307f\u3089\u308c\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

OTC\u9175\u7d20\u304c\u6b20\u640d\u3059\u308b\u3068\u3001\u30ab\u30eb\u30d0\u30e2\u30a4\u30eb\u30ea\u30f3\u9178\u3068\u30aa\u30eb\u30cb\u30c1\u30f3\u304b\u3089\u30b7\u30c8\u30eb\u30ea\u30f3\u3092\u751f\u6210\u3059\u308b\u53cd\u5fdc\u304c\u963b\u5bb3\u3055\u308c\u3001\u5c3f\u7d20\u56de\u8def\u304c\u505c\u6b62\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

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

\u65b0\u751f\u5150\u578b\uff08\u7537\u5150\u306b\u591a\u3044\uff09<\/strong><\/h3>\n\n\n\n
    \n
  • \u54fa\u4e73\u4e0d\u826f<\/li>\n\n\n\n
  • \u5614\u5410<\/li>\n\n\n\n
  • \u547c\u5438\u4fc3\u8feb<\/li>\n\n\n\n
  • \u610f\u8b58\u969c\u5bb3<\/li>\n\n\n\n
  • \u3051\u3044\u308c\u3093<\/li>\n\n\n\n
  • \u660f\u7761<\/li>\n<\/ul>\n\n\n\n

    \u9045\u767a\u578b\uff08\u5c0f\u5150\u301c\u6210\u4eba\uff09<\/strong><\/h3>\n\n\n\n
      \n
    • \u982d\u75db<\/li>\n\n\n\n
    • \u6613\u75b2\u52b4\u611f<\/li>\n\n\n\n
    • \u5614\u5410<\/li>\n\n\n\n
    • \u610f\u8b58\u969c\u5bb3\uff08\u30b9\u30c8\u30ec\u30b9\u6642\uff09<\/li>\n\n\n\n
    • \u7cbe\u795e\u75c7\u72b6<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u8840\u4e2d\u30a2\u30f3\u30e2\u30cb\u30a2\u9ad8\u5024<\/li>\n\n\n\n
      2. \u8840\u4e2d\u30b7\u30c8\u30eb\u30ea\u30f3\u4f4e\u5024<\/li>\n\n\n\n
      3. \u5c3f\u4e2d\u30aa\u30ed\u30c8\u9178\u9ad8\u5024<\/li>\n\n\n\n
      4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08OTC\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n

        \u6025\u6027\u671f<\/strong><\/h3>\n\n\n\n
          \n
        • \u8840\u6db2\u900f\u6790<\/li>\n\n\n\n
        • \u30a2\u30f3\u30e2\u30cb\u30a2\u9664\u53bb\u85ac\uff08\u5b89\u606f\u9999\u9178Na\u3001\u30d5\u30a7\u30cb\u30eb\u9162\u9178Na\uff09<\/li>\n\n\n\n
        • \u4f4e\u86cb\u767d\u98df<\/li>\n<\/ul>\n\n\n\n

          \u6162\u6027\u7ba1\u7406<\/strong><\/h3>\n\n\n\n
            \n
          • \u4f4e\u86cb\u767d\u98df\uff0b\u5fc5\u9808\u30a2\u30df\u30ce\u9178\u88dc\u5145<\/li>\n\n\n\n
          • \u7a92\u7d20\u6355\u6349\u85ac<\/li>\n\n\n\n
          • \u809d\u79fb\u690d\uff08\u6839\u6cbb\u7684\u6cbb\u7642\uff09<\/li>\n<\/ul>\n\n\n\n

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

            Ornithine Transcarbamylase Deficiency \u2014 GeneReviews, PubMed Central.(PMC)
            OTC deficiency \u2014 Orphanet Rare Disease Database.(Orphanet)<\/p>\n\n\n\n

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