{"id":122066,"date":"2026-01-08T16:37:48","date_gmt":"2026-01-08T07:37:48","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122066"},"modified":"2026-03-03T13:47:12","modified_gmt":"2026-03-03T04:47:12","slug":"methylmalonic-aciduria-mmab-related-mmab","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-mmab-related-mmab\/","title":{"rendered":"\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\uff08MMAB\u95a2\u9023\uff09"},"content":{"rendered":"\n

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

\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\uff08Methylmalonic Acidemia\uff1aMMA\uff09\u306f\u3001\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u4ee3\u8b1d\u7d4c\u8def\u306b\u95a2\u4e0e\u3059\u308b\u9175\u7d20\u307e\u305f\u306f\u88dc\u56e0\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002MMAB\u95a2\u9023\u578b\u306f\u3001\u30e1\u30c1\u30eb\u30de\u30ed\u30cb\u30ebCoA\u30e0\u30bf\u30fc\u30bc\u306e\u88dc\u56e0\u5b50\u3067\u3042\u308b\u30a2\u30c7\u30ce\u30b7\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\uff08AdoCbl\uff09\u306e\u5408\u6210\u306b\u95a2\u4e0e\u3059\u308bATP\u4f9d\u5b58\u6027\u9175\u7d20\u306e\u6b20\u640d\u306b\u3088\u308a\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n

MMAB\u304c\u6b20\u640d\u3059\u308b\u3068\u30d3\u30bf\u30df\u30f3B12\u306e\u6d3b\u6027\u578b\u304c\u7523\u751f\u3055\u308c\u305a\u3001\u30e1\u30c1\u30eb\u30de\u30ed\u30cb\u30ebCoA\u30e0\u30bf\u30fc\u30bc\u304c\u6a5f\u80fd\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u304c\u4f53\u5185\u306b\u84c4\u7a4d\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u3001\u4f4e\u8840\u7cd6\u3001\u795e\u7d4c\u969c\u5bb3\u3001\u814e\u969c\u5bb3\u306a\u3069\u591a\u81d3\u5668\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

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

MMA\u5168\u4f53\u306e\u767a\u751f\u983b\u5ea6\u306f\u7d045\u4e07\u51fa\u751f\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001MMAB\u95a2\u9023\u578b\u306f\u305d\u306e\u4e00\u90e8\u3092\u5360\u3081\u307e\u3059\u3002\u65e5\u672c\u3092\u542b\u3080\u4e16\u754c\u5404\u5730\u3067\u6563\u767a\u7684\u306b\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\u306fMMAB\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002MMAB\u907a\u4f1d\u5b50\u306f\u30d2\u30c812\u756a\u67d3\u8272\u4f53\uff0812q24\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30a2\u30c7\u30ce\u30b7\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\u5408\u6210\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u6b20\u640d\u3059\u308b\u3068B12\u4f9d\u5b58\u4ee3\u8b1d\u304c\u505c\u6b62\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\u30fb\u4e73\u5150\u671f<\/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
  • \u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9<\/li>\n\n\n\n
  • \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
    • \u814e\u969c\u5bb3<\/li>\n\n\n\n
    • \u3066\u3093\u304b\u3093<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u5c3f\u4e2d\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u9ad8\u5024<\/li>\n\n\n\n
      2. \u8840\u4e2d\u30d7\u30ed\u30d4\u30aa\u30cb\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u4e0a\u6607<\/li>\n\n\n\n
      3. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08MMAB\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
          \n
        • \u4f4e\u86cb\u767d\u98df<\/li>\n\n\n\n
        • \u30d3\u30bf\u30df\u30f3B12\uff08\u53cd\u5fdc\u578b\u3042\u308a\uff09<\/li>\n\n\n\n
        • \u30ab\u30eb\u30cb\u30c1\u30f3\u88dc\u5145<\/li>\n\n\n\n
        • \u4ee3\u8b1d\u6027\u30af\u30ea\u30fc\u30bc\u7ba1\u7406<\/li>\n\n\n\n
        • \u814e\u4e0d\u5168\u6642\u900f\u6790<\/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\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)
          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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