{"id":61578,"date":"2023-09-01T13:33:51","date_gmt":"2023-09-01T04:33:51","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=61578"},"modified":"2026-05-08T13:59:39","modified_gmt":"2026-05-08T04:59:39","slug":"ethylmalonic-acid-encephalopathy","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ethylmalonic-acid-encephalopathy\/","title":{"rendered":"\u30a8\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8133\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\" id=\"\u6982\u8981\">\u6982\u8981<\/h2>\n\n\n\n<p>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u306f\u3001\u30e1\u30c1\u30eb\u30de\u30ed\u30cb\u30ebCoA(MM-CoA)\u30e0\u30bf\u30fc\u30bc(EC5.4.99.2;MCM) \u306e\u6d3b\u6027\u4f4e\u4e0b\u306b\u3088\u3063\u3066\u3001\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u6709\u6a5f\u9178\u304c\u84c4\u7a4d\u3057\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306b\u4f34\u3046\u5404\u7a2e\u306e\u75c7\u72b6\u3092\u5448\u3059\u308b\u75be\u60a3\u3067\u3059\u3002\u30e1\u30c1\u30eb\u30de\u30ed\u30cb\u30ebCoA \u306e\u4ee3\u8b1d\u306b\u969c\u5bb3\u3092\u6765\u3059\u539f\u56e0\u3068\u3057\u3066\u306f\u3001(\uff11)MCM \u6b20\u640d\u75c7(MIM#251000)\u3068\u3001(\uff12)\u30d3\u30bf\u30df\u30f3B12\u306e\u6442\u53d6\u30fb\u8178\u7ba1\u3067\u306e\u5438\u53ce\u30fb\u8f38\u9001\u304b\u3089\u3001MCM\u306e\u6d3b\u6027\u578b\u88dc\u9175\u7d20\u30a2\u30c7\u30ce\u30b7\u30eb\u30b3\u30d0\u30e9\u30df\u30f3(\u30b3\u30d0\u30de\u30df\u30c9)\u5408\u6210\u307e\u3067\u306e\u8af8\u6bb5\u968e\u306b\u304a\u3051\u308b\u969c\u5bb3\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u30b3\u30d0\u30e9\u30df\u30f3\u4ee3\u8b1d\u7570\u5e38\u306f\u76f8\u88dc\u6027\u89e3\u6790\u304b\u3089cblA\uff5ecblG\u306b\u5206\u985e\u3055\u308c\u3001cblA\u3001cblB\u306f\u30a2\u30c7\u30ce\u30b7\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\u5408\u6210\u3060\u3051\u306b\u969c\u5bb3\u3092\u6765\u3057\u3066MCM\u6b20\u640d\u75c7\u3068\u540c\u69d8\u306e\u75c7\u72b6\u3092\u5448\u3059\u308b\u306e\u306b\u5bfe\u3057\u3001\u30e1\u30c1\u30aa\u30cb\u30f3\u5408\u6210\u9175\u7d20\u306b\u5fc5\u8981\u306a\u30e1\u30c1\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\u306e\u5408\u6210\u306b\u5171\u901a\u3059\u308b\u7d4c\u8def\u306e\u969c\u5bb3\u3067\u3042\u308bcblC\u3001cblE\u3001cblF\u3001cblG\u306f\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u5897\u52a0\u3092\u4f34\u3044\u3001\u81e8\u5e8a\u50cf\u3092\u7570\u306b\u3057\u307e\u3059\u3002cblD\u306f\u3001\u8cac\u4efb\u5206\u5b50MMADHC\u304ccblC\u306e\u8cac\u4efb\u5206\u5b50MMACHC\u306b\u3088\u308b\u4fee\u98fe\u3092\u53d7\u3051\u305f\u30b3\u30d0\u30e9\u30df\u30f3\u4ee3\u8b1d\u4e2d\u9593\u4f53\u306e\u7d30\u80de\u5185\u5c40\u5728\uff08\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u53c8\u306f\u7d30\u80de\u8cea\uff09\u306e\u632f\u308a\u5206\u3051\u3092\u62c5\u3063\u3066\u304a\u308a\u3001\u907a\u4f1d\u5b50\u5909\u7570\u306e\u4f4d\u7f6e\u306b\u3088\u3063\u3066\u3001\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u5358\u72ec\u578b\uff0f\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u5358\u72ec\u578b\uff0f\u6df7\u5408\u578b\u306b\u5206\u304b\u308c\u307e\u3059\u3002\u672c\u8a3a\u65ad\u57fa\u6e96\u3067\u306f\u3001MCM\u6b20\u640d\u75c7\u3001cblA\u3001cblB\u3001\u53ca\u3073cblD\u306e\u3046\u3061\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u5897\u52a0\u3092\u4f34\u308f\u306a\u3044\u75c5\u578b\u3092\u5bfe\u8c61\u3068\u3057\u3066\u53d6\u308a\u6271\u3044\u307e\u3059\u3002\u3044\u305a\u308c\u3082\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<h2 id=\"\u75ab\u5b66\">\u75ab\u5b66<\/h2>\n\n\n\n<p>\u65b0\u751f\u5150\u30de\u30b9\u30fb\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\uff08\u751f\u307e\u308c\u30665\u65e5\u76ee\u524d\u5f8c\u3067\u884c\u3046\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\uff09\u306e\u56fd\u5185\u7d71\u8a08\u304b\u3089\u306f\u3001\u7d0412\u4e07\u4eba\u306b1\u540d\u306e\u5272\u5408\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u75c7\u72b6\u3092\u793a\u3059\u60a3\u8005\u69d8\u306e\u5272\u5408\u306f\u3001\u6709\u6a5f\u9178\u8840\u75c7\u306e\u306a\u304b\u3067\u4e00\u756a\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u56fd\u5185\u306b\u306f\u7d04300\u540d\u306e\u60a3\u8005\u69d8\u304c\u3044\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u73fe\u5728\u3001\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u75c7\u60a3\u8005\u767b\u9332\u5236\u5ea6\uff08JaSMln &amp; 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