{"id":122071,"date":"2026-01-08T16:50:19","date_gmt":"2026-01-08T07:50:19","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122071"},"modified":"2026-03-03T13:44:21","modified_gmt":"2026-03-03T04:44:21","slug":"methylmalonic-aciduria-type-mut0-mmut","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-type-mut0-mmut\/","title":{"rendered":"\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7MUT0\u578b\uff08MMUT\u95a2\u9023\uff09"},"content":{"rendered":"\n

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

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MUT0\u578b\u306f\u30d3\u30bf\u30df\u30f3B12\u975e\u53cd\u5fdc\u578b\u3067\u3042\u308a\u3001\u6cbb\u7642\u62b5\u6297\u6027\u304c\u9ad8\u304f\u3001\u65e9\u671f\u304b\u3089\u91cd\u7be4\u306a\u4ee3\u8b1d\u6027\u30af\u30ea\u30fc\u30bc\u3092\u7e70\u308a\u8fd4\u3057\u307e\u3059\u3002\u65b0\u751f\u5150\u671f\u767a\u75c7\u304c\u591a\u304f\u3001\u751f\u547d\u4e88\u5f8c\u30fb\u795e\u7d4c\u4e88\u5f8c\u3068\u3082\u306b\u4e0d\u826f\u306a\u3053\u3068\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

\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u5168\u4f53\u306e\u767a\u751f\u983b\u5ea6\u306f\u7d045\u4e07\u51fa\u751f\u306b1\u4eba\u3068\u3055\u308c\u3001\u305d\u306e\u3046\u3061MUT\u578b\u304c\u6700\u3082\u591a\u304f\u3092\u5360\u3081\u307e\u3059\u3002MUT0\u578b\u306f\u305d\u306e\u4e2d\u3067\u3082\u91cd\u75c7\u4f8b\u306b\u76f8\u5f53\u3057\u307e\u3059\u3002\u4e16\u754c\u5404\u5730\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306fMMUT\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002MMUT\u907a\u4f1d\u5b50\u306f\u30d2\u30c86\u756a\u67d3\u8272\u4f53\uff086p12\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u9175\u7d20MUT\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002MUT0\u578b\u3067\u306f\u9175\u7d20\u6d3b\u6027\u304c\u5b8c\u5168\u306b\u6b20\u640d\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

\u65b0\u751f\u5150\u671f<\/strong><\/h3>\n\n\n\n
    \n
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  • \u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7<\/li>\n<\/ul>\n\n\n\n

    \u6162\u6027\u671f<\/strong><\/h3>\n\n\n\n
      \n
    • \u767a\u9054\u9045\u6ede<\/li>\n\n\n\n
    • \u3066\u3093\u304b\u3093<\/li>\n\n\n\n
    • \u814e\u4e0d\u5168<\/li>\n\n\n\n
    • \u81b5\u708e<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u9ad8\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u30fb\u5c3f\u75c7<\/li>\n\n\n\n
      2. \u975e\u30b1\u30c8\u30fc\u30b7\u30b9\u6027\u4f4e\u8840\u7cd6<\/li>\n\n\n\n
      3. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08MMUT\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
          \n
        • \u4f4e\u86cb\u767d\u98df\uff08\u30d0\u30ea\u30f3\u30fb\u30a4\u30bd\u30ed\u30a4\u30b7\u30f3\u5236\u9650\uff09<\/li>\n\n\n\n
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        • \u809d\u79fb\u690d\uff08\u4ee3\u8b1d\u5b89\u5b9a\u5316\u76ee\u7684\uff09<\/li>\n<\/ul>\n\n\n\n

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

          \u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7MUT0\u578b \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)
          Fenton WA et al. Disorders of propionate and methylmalonate metabolism. Mol Genet Metab. 2001.(Nature)
          Methylmalonic Acidemia \u2014 GeneReviews, PubMed Central.(PMC)
          Methylmalonic Acidemia \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n\n\n\n

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