{"id":122034,"date":"2026-01-08T15:24:17","date_gmt":"2026-01-08T06:24:17","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122034"},"modified":"2026-03-03T15:32:19","modified_gmt":"2026-03-03T06:32:19","slug":"ornithine-aminotransferase-deficiency-oat","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-aminotransferase-deficiency-oat\/","title":{"rendered":"\u30aa\u30eb\u30cb\u30c1\u30f3\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u4e4f\u75c7\uff08OAT\u95a2\u9023\uff09"},"content":{"rendered":"\n

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

\u30aa\u30eb\u30cb\u30c1\u30f3\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u4e4f\u75c7\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u9175\u7d20\u3067\u3042\u308b\u30aa\u30eb\u30cb\u30c1\u30f3\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\uff08OAT\uff09\u306e\u6b20\u640d\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002\u672c\u75be\u60a3\u306f\u81e8\u5e8a\u7684\u306b\u306f\u300c\u30ae\u30eb\u30b7\u30f3\u578b\u8108\u7d61\u7db2\u819c\u840e\u7e2e\u75c7\uff08gyrate atrophy\uff09\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u3001\u7db2\u819c\u30fb\u8108\u7d61\u819c\u306e\u9032\u884c\u6027\u5909\u6027\u3068\u9ad8\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

OAT\u306f\u30aa\u30eb\u30cb\u30c1\u30f3\u3092\u30d4\u30ed\u30ea\u30f3\u9178\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u306b\u5909\u63db\u3059\u308b\u53cd\u5fdc\u3092\u89e6\u5a92\u3057\u3001\u30a2\u30eb\u30ae\u30cb\u30f3\u4ee3\u8b1d\u304a\u3088\u3073\u30d7\u30ed\u30ea\u30f3\u5408\u6210\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u30aa\u30eb\u30cb\u30c1\u30f3\u304c\u8840\u4e2d\u306b\u84c4\u7a4d\u3057\u3001\u7db2\u819c\u8272\u7d20\u4e0a\u76ae\u304a\u3088\u3073\u8108\u7d61\u819c\u306e\u5909\u6027\u304c\u9032\u884c\u3057\u307e\u3059\u3002\u591a\u304f\u306f\u5c0f\u5150\u671f\u304b\u3089\u591c\u76f2\u3092\u521d\u767a\u75c7\u72b6\u3068\u3057\u3066\u767a\u75c7\u3057\u3001\u9032\u884c\u3059\u308b\u3068\u8996\u91ce\u72ed\u7a84\u3001\u8996\u529b\u4f4e\u4e0b\u3001\u5931\u660e\u306b\u81f3\u308a\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306f\u6975\u3081\u3066\u7a00\u3067\u3001\u4e16\u754c\u7684\u306a\u6709\u75c5\u7387\u306f100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u3084\u65e5\u672c\u3067\u6bd4\u8f03\u7684\u5831\u544a\u4f8b\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306fOAT\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002OAT\u907a\u4f1d\u5b50\u306f\u30d2\u30c810\u756a\u67d3\u8272\u4f53\uff0810q26\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u306e\u6b20\u640d\u306b\u3088\u308a\u9ad8\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7\u304c\u751f\u3058\u3001\u7db2\u819c\u7d30\u80de\u6bd2\u6027\u3092\u5f15\u304d\u8d77\u3053\u3057\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

\u773c\u75c7\u72b6<\/strong><\/h3>\n\n\n\n
    \n
  • \u591c\u76f2<\/li>\n\n\n\n
  • \u8996\u91ce\u72ed\u7a84<\/li>\n\n\n\n
  • \u9032\u884c\u6027\u8996\u529b\u4f4e\u4e0b<\/li>\n\n\n\n
  • \u9ec4\u6591\u5909\u6027<\/li>\n<\/ul>\n\n\n\n

    \u5168\u8eab\u75c7\u72b6<\/strong><\/h3>\n\n\n\n
      \n
    • \u7b4b\u529b\u4f4e\u4e0b<\/li>\n\n\n\n
    • \u6210\u9577\u9045\u5ef6\uff08\u307e\u308c\uff09<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h3>\n\n\n\n
        \n
      1. \u9ad8\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7<\/li>\n\n\n\n
      2. \u773c\u5e95\u691c\u67fb\u3067\u8f2a\u72b6\u306e\u8108\u7d61\u7db2\u819c\u840e\u7e2e<\/li>\n\n\n\n
      3. ERG\u7570\u5e38<\/li>\n\n\n\n
      4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08OAT\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
          \n
        • \u4f4e\u30a2\u30eb\u30ae\u30cb\u30f3\u98df<\/li>\n\n\n\n
        • \u30d3\u30bf\u30df\u30f3B6\u88dc\u5145\uff08\u53cd\u5fdc\u4f8b\u3042\u308a\uff09<\/li>\n\n\n\n
        • \u4f4e\u30bf\u30f3\u30d1\u30af\u98df<\/li>\n\n\n\n
        • \u5b9a\u671f\u773c\u79d1\u30d5\u30a9\u30ed\u30fc<\/li>\n<\/ul>\n\n\n\n

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

          \u30aa\u30eb\u30cb\u30c1\u30f3\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\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)
          Valle D et al. Gyrate atrophy of the choroid and retina: OAT deficiency. J Clin Invest. 1981.(Nature)
          Ornithine Aminotransferase Deficiency \u2014 GeneReviews, PubMed Central.(PMC)
          Ornithine Aminotransferase Deficiency \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n\n\n\n

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