{"id":122049,"date":"2026-01-08T16:00:54","date_gmt":"2026-01-08T07:00:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122049"},"modified":"2026-03-03T13:53:27","modified_gmt":"2026-03-03T04:53:27","slug":"long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency-hadha","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency-hadha\/","title":{"rendered":"\u9577\u93963-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7\uff08HADHA\u95a2\u9023\uff09"},"content":{"rendered":"\n

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

\u9577\u93963-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7\uff08Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency\uff1aLCHAD\u6b20\u640d\u75c7\uff09\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u8102\u80aa\u9178\u03b2\u9178\u5316\u7d4c\u8def\u306b\u95a2\u4e0e\u3059\u308b\u30c8\u30ea\u30d5\u30a1\u30f3\u30af\u30b7\u30e7\u30ca\u30eb\u30d7\u30ed\u30c6\u30a4\u30f3\uff08mitochondrial trifunctional protein, MTP\uff09\u306e\u03b1\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u69cb\u6210\u3059\u308bHADHA\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308a\u751f\u3058\u308b\u5148\u5929\u6027\u8102\u80aa\u9178\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002LCHAD\u306f\u9577\u9396\u8102\u80aa\u9178\u306e\u5206\u89e3\u904e\u7a0b\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u8102\u80aa\u9178\u304c\u30a8\u30cd\u30eb\u30ae\u30fc\u6e90\u3068\u3057\u3066\u5229\u7528\u3067\u304d\u305a\u3001\u4ee3\u8b1d\u6027\u30af\u30ea\u30fc\u30bc\u3084\u591a\u81d3\u5668\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

\u672c\u75be\u60a3\u306f\u65b0\u751f\u5150\u671f\u307e\u305f\u306f\u4e73\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u4f4e\u8840\u7cd6\u3001\u5fc3\u7b4b\u75c7\u3001\u6a2a\u7d0b\u7b4b\u878d\u89e3\u3001\u809d\u969c\u5bb3\u306a\u3069\u91cd\u7be4\u306a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u6bcd\u4f53\u306b\u598a\u5a20\u6027\u8102\u80aa\u809d\u3084HELLP\u75c7\u5019\u7fa4\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3082\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u6bcd\u5150\u3068\u3082\u306b\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u3092\u6765\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

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

LCHAD\u6b20\u640d\u75c7\u306e\u6709\u75c5\u7387\u306f\u7d0410\u4e07\u301c25\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u5317\u6b27\u8af8\u56fd\u3084\u4e2d\u6b27\u3067\u6bd4\u8f03\u7684\u591a\u304f\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\u306fHADHA\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002HADHA\u907a\u4f1d\u5b50\u306f\u30d2\u30c82\u756a\u67d3\u8272\u4f53\uff082p23\uff09\u306b\u4f4d\u7f6e\u3057\u3001MTP\u306e\u03b1\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u86cb\u767d\u306f\u9577\u9396\u8102\u80aa\u9178\u306e\u03b2\u9178\u5316\u306b\u304a\u3044\u30663\u3064\u306e\u9175\u7d20\u6d3b\u6027\uff08\u30a8\u30ce\u30a4\u30ebCoA\u30d2\u30c9\u30e9\u30bf\u30fc\u30bc\u30013-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u30013-\u30b1\u30c8\u30a2\u30b7\u30ebCoA\u30c1\u30aa\u30e9\u30fc\u30bc\uff09\u3092\u62c5\u3044\u307e\u3059\u3002HADHA\u5909\u7570\u306b\u3088\u308a\u3053\u308c\u3089\u306e\u53cd\u5fdc\u304c\u505c\u6b62\u3057\u3001\u8102\u80aa\u9178\u304c\u5206\u89e3\u3055\u308c\u306a\u304f\u306a\u308a\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
  • \u4f4e\u8840\u7cd6<\/li>\n\n\n\n
  • \u809d\u816b\u5927<\/li>\n\n\n\n
  • \u5fc3\u7b4b\u75c7<\/li>\n\n\n\n
  • \u6a2a\u7d0b\u7b4b\u878d\u89e3<\/li>\n<\/ul>\n\n\n\n

    \u6162\u6027\u671f<\/strong><\/h3>\n\n\n\n
      \n
    • \u7b4b\u529b\u4f4e\u4e0b<\/li>\n\n\n\n
    • \u611f\u899a\u969c\u5bb3<\/li>\n\n\n\n
    • \u7db2\u819c\u5909\u6027<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u4f4e\u8840\u7cd6\uff08\u975e\u30b1\u30c8\u30fc\u30b7\u30b9\u6027\uff09<\/li>\n\n\n\n
      2. \u8840\u4e2d\u9577\u9396\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u7570\u5e38<\/li>\n\n\n\n
      3. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08HADHA\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
          \n
        • \u9577\u9396\u8102\u80aa\u5236\u9650<\/li>\n\n\n\n
        • \u4e2d\u9396\u8102\u80aa\u9178\u88dc\u5145<\/li>\n\n\n\n
        • \u7d76\u98df\u56de\u907f<\/li>\n\n\n\n
        • \u9ad8\u70ad\u6c34\u5316\u7269\u98df<\/li>\n\n\n\n
        • \u4ee3\u8b1d\u6027\u30af\u30ea\u30fc\u30bc\u6642\u306e\u8fc5\u901f\u88dc\u6b63<\/li>\n<\/ul>\n\n\n\n

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

          \u9577\u93963-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\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)
          Spiekerkoetter U et al. Mitochondrial trifunctional protein deficiency. Mol Genet Metab. 2009.(Nature)
          Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency \u2014 GeneReviews, PubMed Central.(PMC)
          Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122049","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122049","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122049\/revisions"}],"predecessor-version":[{"id":125266,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122049\/revisions\/125266"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122049"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}