{"id":122080,"date":"2026-01-08T17:07:02","date_gmt":"2026-01-08T08:07:02","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122080"},"modified":"2026-03-03T12:56:53","modified_gmt":"2026-03-03T03:56:53","slug":"mitochondrial-complex-1-deficiency-ndufaf5-related-ndufaf5","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-1-deficiency-ndufaf5-related-ndufaf5\/","title":{"rendered":"\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53 I \u6b20\u640d\u75c7\uff08NDUFAF5\u95a2\u9023\uff09"},"content":{"rendered":"\n

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

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\u30a8\u30cd\u30eb\u30ae\u30fc\u9700\u8981\u306e\u9ad8\u3044\u81d3\u5668\uff08\u8133\u3001\u5fc3\u7b4b\u3001\u9aa8\u683c\u7b4b\u3001\u809d\u81d3\uff09\u304c\u7279\u306b\u5f71\u97ff\u3092\u53d7\u3051\u3001\u767a\u9054\u9045\u6ede\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u5fc3\u7b4b\u75c7\u3001\u3066\u3093\u304b\u3093\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306a\u3069\u591a\u5f69\u306a\u81e8\u5e8a\u50cf\u3092\u5448\u3057\u307e\u3059\u3002\u4e73\u5150\u671f\u767a\u75c7\u4f8b\u304c\u591a\u3044\u3082\u306e\u306e\u3001\u5c0f\u5150\u671f\u30fb\u6210\u4eba\u671f\u767a\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

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

\u8907\u5408\u4f53 I \u6b20\u640d\u75c7\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u306e\u4e2d\u3067\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u5168\u4f53\u306e\u7d0430%\u3092\u5360\u3081\u307e\u3059\u3002NDUFAF5\u95a2\u9023\u578b\u306f\u305d\u306e\u4e2d\u3067\u3082\u7a00\u306a\u539f\u56e0\u3067\u3059\u3002(PMC)<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306fNDUFAF5\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002NDUFAF5\u907a\u4f1d\u5b50\u306f\u30d2\u30c820\u756a\u67d3\u8272\u4f53\uff0820q11\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u8907\u5408\u4f53 I \u7d44\u307f\u7acb\u3066\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308aNADH\u8131\u6c34\u7d20\u9175\u7d20\u306e\u6d3b\u6027\u304c\u4f4e\u4e0b\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

\u795e\u7d4c\u7cfb<\/strong><\/h3>\n\n\n\n
    \n
  • \u767a\u9054\u9045\u6ede<\/li>\n\n\n\n
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      \n
    • \u5fc3\u7b4b\u75c7<\/li>\n\n\n\n
    • \u7b4b\u529b\u4f4e\u4e0b<\/li>\n\n\n\n
    • \u6613\u75b2\u52b4\u6027<\/li>\n<\/ul>\n\n\n\n

      \u4ee3\u8b1d<\/strong><\/h3>\n\n\n\n
        \n
      • \u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9<\/li>\n\n\n\n
      • \u4f4e\u8840\u7cd6<\/li>\n<\/ul>\n\n\n\n

        \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
          \n
        1. \u4e73\u9178\u9ad8\u5024<\/li>\n\n\n\n
        2. MRI\u3067\u57fa\u5e95\u6838\u30fb\u8133\u5e79\u75c5\u5909<\/li>\n\n\n\n
        3. \u547c\u5438\u9396\u9175\u7d20\u6d3b\u6027\u4f4e\u4e0b<\/li>\n\n\n\n
        4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08NDUFAF5\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

          \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
            \n
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          • \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30ab\u30af\u30c6\u30eb<\/li>\n\n\n\n
          • \u3066\u3093\u304b\u3093\u7ba1\u7406<\/li>\n\n\n\n
          • \u5fc3\u6a5f\u80fd\u7ba1\u7406<\/li>\n<\/ul>\n\n\n\n

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

            \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53 I \u6b20\u640d\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)
            Fassone E et al. NDUFAF5 mutations cause complex I deficiency. Am J Hum Genet. 2011.(Nature)
            Mitochondrial Complex I Deficiency \u2014 GeneReviews, PubMed Central.(PMC)
            Mitochondrial Complex I Deficiency \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n\n\n\n

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