{"id":147902,"date":"2026-11-03T03:47:33","date_gmt":"2026-11-02T18:47:33","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/d-2-hydroxyglutaric-aciduria-1-d2hgdh\/"},"modified":"2026-11-03T03:47:33","modified_gmt":"2026-11-02T18:47:33","slug":"d-2-hydroxyglutaric-aciduria-1-d2hgdh","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/d-2-hydroxyglutaric-aciduria-1-d2hgdh\/","title":{"rendered":"D-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c71\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">D-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c71\u578b\u306f\u3001<strong>\u4f53\u306e\u306a\u304b\u3067\u3067\u304d\u308b\u300cD-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u300d\u3068\u3044\u3046\u7269\u8cea\u3092\u5206\u89e3\u3067\u304d\u305a\u3001\u5c3f\u3084\u8840\u6db2\u3001\u8133\u810a\u9ac4\u6db2\u306b\u305f\u307e\u3063\u3066\u3057\u307e\u3046\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u75c7<\/strong>\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>D2HGDH<\/strong>\uff082q37.3\uff09\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u4e3b\u306b<strong>\u8133\u306e\u306f\u305f\u3089\u304d\u306b\u5f71\u97ff\u304c\u51fa\u308b\u75c5\u6c17<\/strong>\u3067\u3001<strong>\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u306e\u3051\u3044\u308c\u3093\uff08\u3066\u3093\u304b\u3093\uff09\u3001\u7b4b\u8089\u306e\u7dca\u5f35\u306e\u4f4e\u3055\u3001\u767a\u9054\u306e\u9045\u308c<\/strong>\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001<strong>\u75c7\u72b6\u306e\u91cd\u3055\u306f\u4eba\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u307b\u3068\u3093\u3069\u75c7\u72b6\u306e\u306a\u3044\u65b9\u304b\u3089\u91cd\u3044\u795e\u7d4c\u75c7\u72b6\u3092\u3082\u3064\u65b9\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059<\/strong>\u3002\u5831\u544a\u306f\u4e16\u754c\u3067\u6570\u5341\u4f8b\u7a0b\u5ea6\u3068\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u300cD-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7\u300d\u306b\u306f<strong>1\u578b\u30682\u578b<\/strong>\u304c\u3042\u308a\u307e\u3059\u3002<strong>1\u578b\u306f D2HGDH \u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u75c5\u6c17\u3067\u30012\u578b\u306f\u5225\u306e\u907a\u4f1d\u5b50\uff08IDH2\uff09\u306e\u5909\u5316\u306b\u3088\u308b\u75c5\u6c17\u3067\u3059\u3002<\/strong>2\u578b\u306f\u591a\u304f\u304c\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u305a\u306b\u5076\u7136\u8d77\u3053\u308b\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\u306e\uff09\u9855\u6027\u907a\u4f1d\u306e\u75c5\u6c17\u3067\u3001\u5fc3\u7b4b\u75c7\u3092\u4f34\u3044\u3084\u3059\u3044\u306a\u3069\u7279\u5fb4\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u540d\u524d\u306e\u4f3c\u305f\u300cL-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7\u300d\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u75c7\u72b6\u306e\u7d4c\u904e\u3082\u5225\u306e\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>D2HGDH<\/strong> \u306f\u3001\u7d30\u80de\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u5de5\u5834\u3067\u3042\u308b<strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3067\u306f\u305f\u3089\u304f\u9175\u7d20\u300cD-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u8131\u6c34\u7d20\u9175\u7d20\u300d\u306e\u8a2d\u8a08\u56f3<\/strong>\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">D-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u306f\u3001\u3075\u3060\u3093\u304b\u3089\u4f53\u306e\u306a\u304b\u3067\u308f\u305a\u304b\u306b\u3064\u304f\u3089\u308c\u3066\u3044\u308b\u7269\u8cea\u3067\u3001\u3053\u306e\u9175\u7d20\u304c<strong>\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u3064\u304f\u308b\u56de\u8def\u3067\u4f7f\u308f\u308c\u308b\u7269\u8cea\uff082-\u30aa\u30ad\u30bd\u30b0\u30eb\u30bf\u30eb\u9178\uff09\u306b\u623b\u3059\u3053\u3068\u3067\u3001\u305f\u307e\u3089\u306a\u3044\u3088\u3046\u306b\u7247\u3065\u3051\u3089\u308c\u3066\u3044\u307e\u3059<\/strong>\u3002\u9175\u7d20\u304c\u306f\u305f\u3089\u304b\u306a\u3044\u3068\u3001<strong>D-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u304c\u4f53\u5185\u306b\u84c4\u7a4d\u3057\u3001\u3068\u304f\u306b\u767a\u9054\u4e2d\u306e\u8133\u306b\u60aa\u3044\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u304a\u7236\u3055\u307e\u30fb\u304a\u6bcd\u3055\u307e\u304c\u305d\u308c\u305e\u308c\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u3067\u3001\u305d\u306e\u4e21\u65b9\u304b\u3089\u5909\u5316\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3057\u307e\u3059\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff09\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3051\u3044\u308c\u3093\uff08\u3066\u3093\u304b\u3093\u767a\u4f5c\uff09<\/strong>\uff1a\u91cd\u3044\u5834\u5408\u306f\u751f\u5f8c\u307e\u3082\u306a\u304f\u301c\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u59cb\u307e\u308a\u3001\u85ac\u3067\u6291\u3048\u306b\u304f\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/strong>\uff1a\u4f53\u304c\u3084\u308f\u3089\u304b\u304f\u3001\u9996\u306e\u3059\u308f\u308a\u306a\u3069\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u9045\u308c\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/strong>\uff1a\u7a0b\u5ea6\u306f\u4eba\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u54fa\u4e73\u304c\u5f31\u3044\u3001\u5614\u5410\u3001\u5143\u6c17\u304c\u306a\u3044\u306a\u3069\u306e\u5168\u8eab\u306e\u75c7\u72b6<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI\u306e\u5909\u5316<\/strong>\uff1a\u8133\u5ba4\u306e\u62e1\u5927\u3001\u8133\u5ba4\u306e\u305d\u3070\u306e\u5c0f\u3055\u306a\u56a2\u80de\u3001\u9ac4\u9798\u5316\uff08\u795e\u7d4c\u306e\u914d\u7dda\u306e\u6210\u719f\uff09\u306e\u9045\u308c\u306a\u3069<\/li>\n\n\n\n<li>\u307e\u308c\u306b\u5fc3\u81d3\u306e\u7b4b\u8089\u306e\u75c5\u6c17\uff08\u5fc3\u7b4b\u75c7\uff09\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001<strong>2\u578b\u306b\u6bd4\u3079\u308b\u3068\u5c11\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u8efd\u75c7\u306e\u65b9\u3084\u307b\u3068\u3093\u3069\u75c7\u72b6\u306e\u306a\u3044\u65b9\u3082\u3044\u307e\u3059<\/strong>\uff1a\u304d\u3087\u3046\u3060\u3044\u306e\u691c\u67fb\u306a\u3069\u3067\u5076\u7136\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3051\u3044\u308c\u3093\u3084\u767a\u9054\u306e\u9045\u308c\u3092\u304d\u3063\u304b\u3051\u306b\u3001<strong>\u5c3f\u306e\u6709\u6a5f\u9178\u5206\u6790<\/strong>\u3092\u884c\u3046\u3068\u3001<strong>2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u306e\u8457\u3057\u3044\u5897\u52a0<\/strong>\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u30022-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u306b\u306f\u300cD\u578b\u300d\u3068\u300cL\u578b\u300d\u304c\u3042\u308a\u3001<strong>\u3069\u3061\u3089\u304c\u5897\u3048\u3066\u3044\u308b\u304b\u3092\u533a\u5225\u3059\u308b\u7279\u5225\u306a\u5206\u6790\u3067\u3001D\u578b\u306e\u5897\u52a0\u3092\u78ba\u304b\u3081\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059<\/strong>\u3002\u982d\u90e8MRI\u306e\u6240\u898b\u3082\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001D-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c71\u578b\u3067\u306f <strong>D2HGDH<\/strong> \u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>1\u578b\uff08\u6f5c\u6027\u907a\u4f1d\uff09\u30682\u578b\uff08\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3067\u306f\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u304c\u307e\u3063\u305f\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306b\u306f\u5927\u304d\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u306f\u3001<strong>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u6210\u9577\u30fb\u767a\u9054\u3092\u652f\u3048\u308b\u652f\u63f4<\/strong>\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3051\u3044\u308c\u3093\u306e\u6cbb\u7642<\/strong>\uff1a\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u7528\u3044\u3066\u767a\u4f5c\u3092\u3067\u304d\u308b\u3060\u3051\u6291\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u652f\u63f4<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\u306a\u3069\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u7642\u80b2<\/li>\n\n\n\n<li><strong>\u6804\u990a\u3068\u98df\u4e8b\u306e\u652f\u63f4<\/strong>\uff1a\u54fa\u4e73\u3084\u98f2\u307f\u8fbc\u307f\u304c\u96e3\u3057\u3044\u5834\u5408\u306e\u5de5\u592b<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf<\/strong>\uff1a\u795e\u7d4c\u306e\u72b6\u614b\u3084\u767a\u9054\u306e\u78ba\u8a8d\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u5fc3\u81d3\u306e\u8a55\u4fa1<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u798f\u7949\u5236\u5ea6\u306e\u6d3b\u7528\u3084\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u542b\u3080\u7d99\u7d9a\u7684\u306a\u652f\u3048<\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>D2HGDH<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p class=\"wp-block-paragraph\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>D2HGDH<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>D2HGDH<\/strong> \u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306b\u5c40\u5728\u3059\u308b<strong>FAD\u4f9d\u5b58\u6027\u306eD-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u8131\u6c34\u7d20\u9175\u7d20<\/strong>\u3092\u30b3\u30fc\u30c9\u3057\u3001D-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\uff08D-2-HG\uff09\u30922-\u30aa\u30ad\u30bd\u30b0\u30eb\u30bf\u30eb\u9178\u3078\u9178\u5316\u3059\u308b\u3002\u4e21\u30a2\u30ec\u30eb\u306e\u6a5f\u80fd\u55aa\u5931\u5909\u7570\u306b\u3088\u308aD-2-HG\u304c\u5c3f\u30fb\u8840\u6f3f\u30fb\u8133\u810a\u9ac4\u6db2\u306b\u84c4\u7a4d\u3057\u3001<strong>2-\u30aa\u30ad\u30bd\u30b0\u30eb\u30bf\u30eb\u9178\u4f9d\u5b58\u6027\u30b8\u30aa\u30ad\u30b7\u30b2\u30ca\u30fc\u30bc\u306e\u963b\u5bb3\u3084\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u306e\u969c\u5bb3\u3092\u4ecb\u3057\u3066\u795e\u7d4c\u6bd2\u6027\u3092\u793a\u3059<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>D-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7\u306f\u907a\u4f1d\u7684\u306b\u7570\u8cea\u3067\u3042\u308b<\/strong>\u2014\u2014<strong>1\u578b\uff08D2HGA1\uff09\u306f D2HGDH \u306e\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u30012\u578b\uff08D2HGA2\uff09\u306f IDH2 \u306eR140\u4f4d\u306a\u3069\u306e\u6a5f\u80fd\u7372\u5f97\u578b\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u5909\u7570\uff08\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u306b\u3088\u308b\u9855\u6027\u907a\u4f1d<\/strong>\u3067\u3042\u308b\u30022\u578b\u306f\u5909\u7570IDH2\u304cD-2-HG\u3092\u904e\u5270\u7523\u751f\u3059\u308b\u3082\u306e\u3067\u3001<strong>\u4e00\u822c\u306b\u5c3f\u4e2dD-2-HG\u6fc3\u5ea6\u304c1\u578b\u3088\u308a\u9ad8\u304f\u3001\u5fc3\u7b4b\u75c7\u306e\u5408\u4f75\u304c\u76ee\u7acb\u3064<\/strong>\u30021\u578b\u306f\u91cd\u75c7\u578b\uff08\u4e73\u5150\u65e9\u671f\u767a\u75c7\u306e\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u767a\u9054\u9045\u6ede\uff09\u304b\u3089\u8efd\u75c7\u30fb\u7121\u75c7\u5019\u4f8b\u307e\u3067\u8868\u73fe\u578b\u306e\u5e45\u304c\u5e83\u3044\u3002\u306a\u304a\u4f53\u7d30\u80de\u6027\u306eIDH1\/IDH2\u5909\u7570\u306f\u795e\u7d4c\u81a0\u816b\u3084\u6025\u6027\u9aa8\u9ac4\u6027\u767d\u8840\u75c5\u3067D-2-HG\u3092\u7523\u751f\u3059\u308b\u300c\u30aa\u30f3\u30b3\u30e1\u30bf\u30dc\u30e9\u30a4\u30c8\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001L-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7\uff08<em>L2HGDH<\/em>\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u3001\u7de9\u5f90\u9032\u884c\u6027\u3067\u76ae\u8cea\u4e0b\u767d\u8cea\u30fb\u6b6f\u72b6\u6838\u30fb\u57fa\u5e95\u6838\u306e\u4fe1\u53f7\u7570\u5e38\u304c\u7279\u5fb4\uff09\u3001D,L-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7\u306e\u5408\u4f75\u578b\uff08<em>SLC25A1<\/em>\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u3001\u91cd\u75c7\u306e\u65b0\u751f\u5150\u671f\u767a\u75c7\uff09\u3001\u304a\u3088\u3073D-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c72\u578b\uff08<em>IDH2<\/em>\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u30ad\u30e9\u30eb\u5206\u6790\u306b\u3088\u308bD\u4f53\u30fbL\u4f53\u306e\u5224\u5225\u3068\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u5fc5\u9808\u3067\u3042\u308a\u3001\u6b21\u5b50\u518d\u767a\u7387\u304c25%\uff08\u6f5c\u6027\uff09\u3068\u307b\u307c0%\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3067\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>1\u578b\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u4e00\u65b9\u30012\u578b\u306e\u591a\u304f\u306f\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u305a\u306b\u5076\u7136\u8d77\u3053\u308b\u3082\u306e\u3067\u3001\u305d\u306e\u5834\u5408\u306e\u518d\u767a\u7387\u306f\u3054\u304f\u308f\u305a\u304b\u3067\u3059\u3002<strong>\u578b\u306b\u3088\u3063\u3066\u518d\u767a\u7387\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. 1\u578b\u30682\u578b\u306f\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3069\u3061\u3089\u3082D-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u304c\u305f\u307e\u308b\u75c5\u6c17\u3067\u3059\u304c\u3001\u539f\u56e0\u306e\u907a\u4f1d\u5b50\u3068\u907a\u4f1d\u306e\u3057\u304b\u305f\u304c\u9055\u3044\u307e\u3059\u3002<\/strong>1\u578b\u306f D2HGDH \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3001\u7269\u8cea\u3092\u5206\u89e3\u3059\u308b\u9175\u7d20\u304c\u306f\u305f\u3089\u304b\u306a\u3044\u305f\u3081\u306b\u8d77\u3053\u308a\u307e\u3059\u30022\u578b\u306f IDH2 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3001\u7269\u8cea\u304c\u3064\u304f\u3089\u308c\u3059\u304e\u308b\u305f\u3081\u306b\u8d77\u3053\u308a\u3001\u5fc3\u81d3\u306e\u75c5\u6c17\u3092\u4f34\u3044\u3084\u3059\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u3063\u304d\u308a\u3057\u305f\u7570\u5e38\u3068\u3057\u3066\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u5c11\u306a\u304f\u3001\u591a\u304f\u306f\u751f\u307e\u308c\u305f\u3042\u3068\u306e\u3051\u3044\u308c\u3093\u3084\u767a\u9054\u306e\u9045\u308c\u304b\u3089\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u78ba\u5b9a\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u524d\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u306e\u304f\u3089\u3044\u91cd\u3044\u75c5\u6c17\u306a\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>1\u578b\u306f\u75c7\u72b6\u306e\u5e45\u304c\u3068\u3066\u3082\u5e83\u304f\u3001\u4e73\u5150\u671f\u304b\u3089\u91cd\u3044\u3051\u3044\u308c\u3093\u3084\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u65b9\u3082\u3044\u308c\u3070\u3001\u307b\u3068\u3093\u3069\u75c7\u72b6\u306e\u306a\u3044\u65b9\u3082\u3044\u307e\u3059\u3002<\/strong>\u540c\u3058\u5bb6\u65cf\u306e\u306a\u304b\u3067\u3082\u7a0b\u5ea6\u304c\u9055\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u304a\u5b50\u3055\u307e\u306e\u72b6\u614b\u306b\u5408\u308f\u305b\u3066\u3001\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u652f\u63f4\u3092\u8003\u3048\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Struys EA, Salomons GS, Achouri Y, et al. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. <em>Am J Hum Genet<\/em>. 2005;76(2):358-360.<\/li>\n\n\n\n<li>Kranendijk M, Struys EA, Gibson KM, et al. Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. <em>Hum Mutat<\/em>. 2010;31(3):279-283.<\/li>\n\n\n\n<li>Kranendijk M, Struys EA, van Schaftingen E, et al. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. <em>Science<\/em>. 2010;330(6002):336.<\/li>\n\n\n\n<li>Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. <em>J Inherit Metab Dis<\/em>. 2012;35(4):571-587.<\/li>\n\n\n\n<li>OMIM #600721 D-2-hydroxyglutaric aciduria 1; D2HGA1. Online Mendelian Inheritance in Man.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147902","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\/147902","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":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147902\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147902"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}