{"id":121983,"date":"2026-01-08T12:10:04","date_gmt":"2026-01-08T03:10:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=121983"},"modified":"2026-03-03T16:32:04","modified_gmt":"2026-03-03T07:32:04","slug":"glycine-encephalopathy-amt-related-amt","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycine-encephalopathy-amt-related-amt\/","title":{"rendered":"\u975e\u30b1\u30c8\u30fc\u30b7\u30b9\u578b\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7"},"content":{"rendered":"\n

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

\u975e\u30b1\u30c8\u30fc\u30b7\u30b9\u578b\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7\uff08NKH\uff09\u306f\u3001\u30b0\u30ea\u30b7\u30f3\u5206\u89e3\u7cfb\u306e\u969c\u5bb3\u306b\u3088\u3063\u3066\u8840\u6db2\u304a\u3088\u3073\u8133\u810a\u9ac4\u6db2\u4e2d\u306b\u30b0\u30ea\u30b7\u30f3\u304c\u904e\u5270\u306b\u84c4\u7a4d\u3059\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002\u30b0\u30ea\u30b7\u30f3\u306f\u6291\u5236\u6027\u304a\u3088\u3073\u8208\u596e\u6027\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3068\u3057\u3066\u50cd\u304f\u305f\u3081\u3001\u305d\u306e\u7570\u5e38\u84c4\u7a4d\u306f\u91cd\u5ea6\u306e\u795e\u7d4c\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002AMT\u95a2\u9023NKH\u306f\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\u306eT\u86cb\u767d\u306e\u6b20\u640d\u306b\u3088\u308b\u578b\u3067\u3001\u65b0\u751f\u5150\u671f\u304b\u3089\u91cd\u7be4\u306a\u795e\u7d4c\u75c7\u72b6\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306f\u6975\u3081\u3066\u7a00\u3067\u3001\u767a\u751f\u983b\u5ea6\u306f\u7d046\u4e07\u301c20\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u5b9a\u5730\u57df\u3067\u983b\u5ea6\u304c\u9ad8\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e16\u754c\u7684\u306b\u6563\u767a\u7684\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n

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

\u75c5\u56e0<\/strong><\/h3>\n\n\n\n

\u672c\u75be\u60a3\u306fAMT\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002AMT\u306f\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\u306e\u30a2\u30df\u30ce\u30e1\u30c1\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\uff08T\u86cb\u767d\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u30b0\u30ea\u30b7\u30f3\u3092\u4e8c\u9178\u5316\u70ad\u7d20\u3068\u30a2\u30f3\u30e2\u30cb\u30a2\u306b\u5206\u89e3\u3059\u308b\u7d4c\u8def\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002\u3053\u306e\u6a5f\u69cb\u304c\u969c\u5bb3\u3055\u308c\u308b\u3068\u30b0\u30ea\u30b7\u30f3\u304c\u5206\u89e3\u3055\u308c\u305a\u4f53\u5185\u306b\u84c4\u7a4d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f<\/strong><\/h3>\n\n\n\n

\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002<\/p>\n\n\n\n

\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3064\u3044\u3066<\/strong><\/h3>\n\n\n\n

AMT\u907a\u4f1d\u5b50\u306f\u5f53\u9662\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u89e3\u6790\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n

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

\u65b0\u751f\u5150\u671f<\/strong><\/h3>\n\n\n\n
    \n
  • \u55dc\u7720<\/li>\n\n\n\n
  • \u54fa\u4e73\u4e0d\u826f<\/li>\n\n\n\n
  • \u7121\u547c\u5438<\/li>\n\n\n\n
  • \u3051\u3044\u308c\u3093<\/li>\n<\/ul>\n\n\n\n

    \u9032\u884c\u671f<\/strong><\/h3>\n\n\n\n
      \n
    • \u91cd\u5ea6\u767a\u9054\u9045\u6ede<\/li>\n\n\n\n
    • \u7b4b\u7dca\u5f35\u7570\u5e38<\/li>\n\n\n\n
    • \u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u65b0\u751f\u5150\u671f\u304b\u3089\u306e\u55dc\u7720\u30fb\u3051\u3044\u308c\u3093\u3067\u7591\u3044\u307e\u3059\u3002<\/li>\n\n\n\n
      2. \u8840\u6db2\u30fb\u8133\u810a\u9ac4\u6db2\u4e2d\u306e\u30b0\u30ea\u30b7\u30f3\u9ad8\u5024\u3001CSF\/\u8840\u6bd4\u4e0a\u6607\u3092\u8a8d\u3081\u307e\u3059\u3002<\/li>\n\n\n\n
      3. \u5c3f\u6709\u6a5f\u9178\u5206\u6790\u3067\u30b1\u30c8\u30f3\u4f53\u9670\u6027\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n
      4. AMT\u907a\u4f1d\u5b50\u5909\u7570\u306e\u540c\u5b9a\u306b\u3088\u308a\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n

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

        \u6839\u672c\u6cbb\u7642\u306f\u306a\u304f\u3001\u795e\u7d4c\u75c7\u72b6\u306e\u7de9\u548c\u3068\u4ee3\u8b1d\u7ba1\u7406\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n

          \n
        • \u30ca\u30c8\u30ea\u30a6\u30e0\u30d9\u30f3\u30be\u30a8\u30fc\u30c8\u306b\u3088\u308b\u30b0\u30ea\u30b7\u30f3\u4f4e\u4e0b<\/li>\n\n\n\n
        • NMDA\u53d7\u5bb9\u4f53\u62ee\u6297\u85ac\uff08\u30c7\u30ad\u30b9\u30c8\u30ed\u30e1\u30c8\u30eb\u30d5\u30a1\u30f3\u306a\u3069\uff09<\/li>\n\n\n\n
        • \u6297\u3066\u3093\u304b\u3093\u85ac<\/li>\n\n\n\n
        • \u6804\u990a\u7ba1\u7406<\/li>\n\n\n\n
        • \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n<\/ul>\n\n\n\n

          \u3010\u53c2\u8003\u6587\u732e\u3011<\/strong><\/h2>\n\n\n\n
            \n
          1. GeneReviews\u00ae: Glycine Encephalopathy<\/em><\/li>\n\n\n\n
          2. MedlinePlus Genetics: Glycine encephalopathy<\/em><\/li>\n\n\n\n
          3. OMIM: AMT-related glycine encephalopathy<\/li>\n\n\n\n
          4. \u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff1a\u975e\u30b1\u30c8\u30fc\u30b7\u30b9\u578b\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7<\/li>\n<\/ol>\n\n\n\n

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