{"id":147895,"date":"2026-11-03T03:47:32","date_gmt":"2026-11-02T18:47:32","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/d-l-2-hydroxyglutaric-aciduria-slc25a1\/"},"modified":"2026-11-03T03:47:32","modified_gmt":"2026-11-02T18:47:32","slug":"d-l-2-hydroxyglutaric-aciduria-slc25a1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/d-l-2-hydroxyglutaric-aciduria-slc25a1\/","title":{"rendered":"D,L-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">D,L-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7\u306f\u3001<strong>\u7d30\u80de\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u5de5\u5834\u3067\u3042\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u7269\u8cea\u306e\u51fa\u3057\u5165\u308c\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u751f\u307e\u308c\u3066\u307e\u3082\u306a\u304f\u304b\u3089\u8133\u306e\u91cd\u3044\u306f\u305f\u3089\u304d\u306e\u969c\u5bb3\u304c\u8d77\u3053\u308b\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>SLC25A1<\/strong>\uff0822q11.21\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\">\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u5c3f\u306e\u306a\u304b\u306b\u300cD-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u300d\u3068\u300cL-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u300d\u3068\u3044\u30462\u7a2e\u985e\u306e\u7269\u8cea\u304c<strong>\u540c\u6642\u306b<\/strong>\u305f\u304f\u3055\u3093\u51fa\u308b\u3053\u3068\u304b\u3089\u3001\u3053\u306e\u540d\u524d\u304c\u3064\u3044\u3066\u3044\u307e\u3059\u3002<strong>\u591a\u304f\u306f\u65b0\u751f\u5150\u671f\u304b\u3089\u3001\u3051\u3044\u308c\u3093\u3001\u7b4b\u8089\u306e\u529b\u306e\u5f31\u3055\u3001\u547c\u5438\u306e\u5f31\u3055\u3001\u54fa\u4e73\u306e\u56f0\u96e3\u3067\u6c17\u3065\u304b\u308c\u3001\u4e73\u5150\u671f\u306b\u4ea1\u304f\u306a\u308b\u304a\u5b50\u3055\u307e\u3082\u5c11\u306a\u304f\u306a\u3044\u91cd\u3044\u75c5\u6c17<\/strong>\u3067\u3059\u3002\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u306f\u4e16\u754c\u3067\u3082\u6570\u5341\u4eba\u7a0b\u5ea6\u306e\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u300c2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7\u300d\u306b\u306f\u3001\u540d\u524d\u306e\u4f3c\u305f\u5225\u306e\u75c5\u6c17\u304c\u3044\u304f\u3064\u304b\u3042\u308a\u307e\u3059\u3002D\u578b\u3060\u3051\u304c\u5897\u3048\u308b\u3082\u306e\uff08D2HGDH \u907a\u4f1d\u5b50\u3084 IDH2 \u907a\u4f1d\u5b50\u304c\u539f\u56e0\uff09\u3001L\u578b\u3060\u3051\u304c\u5897\u3048\u308b\u3082\u306e\uff08L2HGDH \u907a\u4f1d\u5b50\u304c\u539f\u56e0\uff09\u306f\u3001\u305d\u308c\u305e\u308c\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u7d4c\u904e\u3082\u7570\u306a\u308a\u307e\u3059\u3002<strong>D\u578b\u3068L\u578b\u306e\u4e21\u65b9\u304c\u5897\u3048\u3001\u65b0\u751f\u5150\u671f\u304b\u3089\u91cd\u3044\u75c7\u72b6\u304c\u51fa\u308b\u306e\u304c\u3001\u3053\u306e SLC25A1 \u306b\u3088\u308b\u578b\u306e\u7279\u5fb4\u3067\u3059\u3002<\/strong>\u307e\u305f\u3001\u540c\u3058 SLC25A1 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3001<strong>\u795e\u7d4c\u304b\u3089\u7b4b\u8089\u3078\u306e\u4fe1\u53f7\u306e\u4f1d\u308f\u308a\u304c\u5f31\u304f\u306a\u308b\u3001\u3088\u308a\u8efd\u3044\u75c5\u6c17\uff08\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4\uff09\u304c\u8d77\u3053\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>SLC25A1<\/strong> \u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u819c\u306b\u3042\u308b<strong>\u300c\u30af\u30a8\u30f3\u9178\u300d\u3092\u5916\u3078\u904b\u3073\u51fa\u3059\u904b\u3073\u5c4b\uff08\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30af\u30a8\u30f3\u9178\u30ad\u30e3\u30ea\u30a2\uff09<\/strong>\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u306a\u304b\u3067\u3064\u304f\u3089\u308c\u305f\u30af\u30a8\u30f3\u9178\u306f\u3001\u5916\u3078\u904b\u3073\u51fa\u3055\u308c\u3066\u3001<strong>\u8102\u80aa\u3084\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u3064\u304f\u308b\u6750\u6599<\/strong>\u3068\u3057\u3066\u4f7f\u308f\u308c\u307e\u3059\u3002\u8133\u306e\u795e\u7d4c\u3092\u5305\u3080\u300c\u9ac4\u9798\uff08\u305a\u3044\u3057\u3087\u3046\uff09\u300d\u306f\u8102\u80aa\u3092\u591a\u304f\u542b\u3080\u305f\u3081\u3001<strong>\u3053\u306e\u904b\u3073\u51fa\u3057\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u3044\u3068\u3001\u8133\u306e\u767a\u9054\u306b\u5fc5\u8981\u306a\u6750\u6599\u304c\u4e0d\u8db3\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059<\/strong>\u3002\u3055\u3089\u306b\u3001\u884c\u304d\u5834\u3092\u5931\u3063\u305f\u7269\u8cea\u304c\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u306a\u304b\u306b\u305f\u307e\u308a\u3001\u305d\u306e\u4e00\u90e8\u304c2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u306b\u5909\u308f\u3063\u3066\u3001\u5c3f\u306b\u5927\u91cf\u306b\u51fa\u3066\u304d\u307e\u3059\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>\u65b0\u751f\u5150\u671f\u304b\u3089\u306e\u3051\u3044\u308c\u3093<\/strong>\uff1a\u85ac\u304c\u52b9\u304d\u306b\u304f\u3044\u3053\u3068\u304c\u591a\u304f\u3001<strong>\u3053\u306e\u75c5\u6c17\u306e\u4e2d\u5fc3\u3068\u306a\u308b\u75c7\u72b6\u3067\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u7b4b\u8089\u306e\u7dca\u5f35\u306e\u4f4e\u3055<\/strong>\uff08\u4f53\u304c\u3084\u308f\u3089\u304b\u304f\u3001\u3050\u306b\u3083\u3063\u3068\u3057\u305f\u5370\u8c61\uff09<\/li>\n\n\n\n<li><strong>\u547c\u5438\u306e\u5f31\u3055\u30fb\u7121\u547c\u5438\u767a\u4f5c<\/strong>\uff1a\u547c\u5438\u306e\u88dc\u52a9\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u54fa\u4e73\u306e\u56f0\u96e3\u3001\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u91cd\u3044\u9045\u308c<\/strong><\/li>\n\n\n\n<li><strong>\u8133\u306e\u5f62\u306e\u5909\u5316<\/strong>\uff1a\u8133\u6881\uff08\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u90e8\u5206\uff09\u306e\u6b20\u640d\u3084\u4f4e\u5f62\u6210\u3001\u8133\u5ba4\u306e\u62e1\u5927\u3001\u9ac4\u9798\u5316\u306e\u9045\u308c\u306a\u3069<\/li>\n\n\n\n<li>\u8996\u795e\u7d4c\u306e\u4f4e\u5f62\u6210\uff08\u898b\u3048\u306b\u304f\u3055\uff09\u3001\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d<\/li>\n\n\n\n<li>\u8840\u6db2\u4e2d\u306e\u4e73\u9178\u306e\u4e0a\u6607\u3001\u4e00\u90e8\u3067\u5fc3\u7b4b\u306e\u75c5\u6c17<\/li>\n\n\n\n<li><strong>\u91cd\u3044\u4f8b\u3067\u306f\u4e73\u5150\u671f\u306b\u4ea1\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/strong>\u3002\u4e00\u65b9\u3067\u3001\u3088\u308a\u9577\u304f\u751f\u5b58\u3057\u3001\u6bd4\u8f03\u7684\u8efd\u3044\u7d4c\u904e\u3092\u3068\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\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\">\u65b0\u751f\u5150\u671f\u306e\u3051\u3044\u308c\u3093\u3084\u7b4b\u8089\u306e\u7dca\u5f35\u306e\u4f4e\u3055\u304b\u3089\u7591\u308f\u308c\u3001<strong>\u5c3f\u306e\u6709\u6a5f\u9178\u5206\u6790<\/strong>\u3092\u884c\u3044\u307e\u3059\u3002<strong>D-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u3068L-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u304c\u4e21\u65b9\u3068\u3082\u5897\u3048\u3001\u3042\u308f\u305b\u3066\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u306e\u9014\u4e2d\u306e\u7269\u8cea\uff082-\u30b1\u30c8\u30b0\u30eb\u30bf\u30eb\u9178\u306a\u3069\uff09\u304c\u5897\u3048\u308b\u4e00\u65b9\u3067\u3001\u5c3f\u4e2d\u306e\u30af\u30a8\u30f3\u9178\u304c\u5c11\u306a\u3044<\/strong>\u3053\u3068\u304c\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002\u982d\u90e8MRI\u691c\u67fb\u3067\u306f\u8133\u6881\u306e\u7570\u5e38\u3084\u8133\u5ba4\u306e\u62e1\u5927\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u8133\u5ba4\u306e\u62e1\u5927\u3084\u8133\u6881\u306e\u7570\u5e38\u304c\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001<strong>\u305d\u308c\u3060\u3051\u3067\u3053\u306e\u75c5\u6c17\u3068\u5224\u65ad\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093<\/strong>\u3002\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001<strong>SLC25A1<\/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>\u540d\u524d\u306e\u4f3c\u305f\u4ed6\u306e2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7\u3068\u306f\u907a\u4f1d\u5b50\u3082\u907a\u4f1d\u5f62\u5f0f\u3082\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\u6cbb\u3059\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u30af\u30a8\u30f3\u9178\u3092\u88dc\u3046\u6cbb\u7642\u3092\u8a66\u307f\u305f\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u52b9\u679c\u306f\u307e\u3060\u5341\u5206\u306b\u78ba\u304b\u3081\u3089\u308c\u3066\u3044\u307e\u305b\u3093\u3002<strong>\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u3068\u3001\u304a\u5b50\u3055\u307e\u3068\u3054\u5bb6\u65cf\u306e\u751f\u6d3b\u3092\u652f\u3048\u308b\u652f\u63f4\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/strong><\/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\u7d44\u307f\u5408\u308f\u305b\u3066\u767a\u4f5c\u3092\u6e1b\u3089\u3059\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u547c\u5438\u306e\u7ba1\u7406<\/strong>\uff1a\u7121\u547c\u5438\u3084\u547c\u5438\u306e\u5f31\u3055\u306b\u5bfe\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u547c\u5438\u306e\u88dc\u52a9\u3092\u884c\u3044\u307e\u3059\u3002\u3069\u3053\u307e\u3067\u884c\u3046\u304b\u306f\u3054\u5bb6\u65cf\u3068\u533b\u7642\u30c1\u30fc\u30e0\u3067\u8a71\u3057\u5408\u3063\u3066\u6c7a\u3081\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6804\u990a\u306e\u7ba1\u7406<\/strong>\uff1a\u54fa\u4e73\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u9f3b\u304b\u3089\u306e\u30c1\u30e5\u30fc\u30d6\u3084\u80c3\u308d\u3046\u306b\u3088\u308b\u6804\u990a\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf<\/strong>\uff1a\u76ee\u3084\u5fc3\u81d3\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u7642\u80b2<\/strong>\uff1a\u59ff\u52e2\u306e\u4fdd\u6301\u3084\u767a\u9054\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u7de9\u548c\u30b1\u30a2\u3068\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4<\/strong>\uff1a\u304a\u5b50\u3055\u307e\u306e\u82e6\u75db\u3092\u3084\u308f\u3089\u3052\u3001\u3054\u5bb6\u65cf\u304c\u904e\u3054\u3059\u6642\u9593\u3092\u5927\u5207\u306b\u3059\u308b\u652f\u63f4<\/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>SLC25A1<\/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>SLC25A1<\/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>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\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>SLC25A1<\/strong> \u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u819c\u306e\u30af\u30a8\u30f3\u9178\uff0f\u30ea\u30f3\u30b4\u9178\u4ea4\u63db\u8f38\u9001\u4f53\uff08CIC\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3001<strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u306e\u30af\u30a8\u30f3\u9178\u3092\u7d30\u80de\u8cea\u3078\u8f38\u9001\u3057\u3066\u3001\u8102\u80aa\u9178\u30fb\u30b9\u30c6\u30ed\u30fc\u30eb\u5408\u6210\u306e\u305f\u3081\u306e\u30a2\u30bb\u30c1\u30ebCoA\u4f9b\u7d66\u3092\u62c5\u3046<\/strong>\u3002\u6b20\u640d\u3067\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u306b2-\u30b1\u30c8\u30b0\u30eb\u30bf\u30eb\u9178\u304c\u84c4\u7a4d\u3057\u3001<strong>\u305d\u306e\u9084\u5143\u306b\u3088\u308aD-2-HG\u3068L-2-HG\u304c\u3068\u3082\u306b\u5897\u52a0<\/strong>\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u30022013\u5e74\u306b Nota \u3089\u304c\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3067\u672c\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u540c\u5b9a\u3057\u305f\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u751f\u5316\u5b66\u7684\u306b\u306f<strong>\u5c3f\u4e2dD-2-HG\u304cL-2-HG\u3088\u308a\u512a\u4f4d\u306b\u4e0a\u6607\u3057\u3001\u30af\u30a8\u30f3\u9178\u56de\u8def\u4e2d\u9593\u4f53\uff082-\u30b1\u30c8\u30b0\u30eb\u30bf\u30eb\u9178\u3001\u30b3\u30cf\u30af\u9178\u3001\u30d5\u30de\u30eb\u9178\u3001\u30ea\u30f3\u30b4\u9178\uff09\u306e\u5897\u52a0\u3068\u5c3f\u4e2d\u30af\u30a8\u30f3\u9178\u306e\u4f4e\u5024\u3092\u4f34\u3046<\/strong>\u306e\u304c\u7279\u5fb4\u3067\u3042\u308b\u3002\u81e8\u5e8a\u7684\u306b\u306f\u65b0\u751f\u5150\u671f\u767a\u75c7\u306e\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u547c\u5438\u4e0d\u5168\u3001\u8133\u6881\u4f4e\u5f62\u6210\u30fb\u6b20\u640d\u3001\u8996\u795e\u7d4c\u4f4e\u5f62\u6210\u304c\u4e2d\u6838\u3068\u306a\u308b\u3002<strong>\u6b8b\u5b58\u8f38\u9001\u6d3b\u6027\u3068\u91cd\u75c7\u5ea6\u306b\u4e00\u5b9a\u306e\u76f8\u95a2\u304c\u793a\u5506\u3055\u308c<\/strong>\u3001\u6b8b\u5b58\u6d3b\u6027\u306e\u3042\u308b\u4f8b\u3067\u306f\u9577\u671f\u751f\u5b58\u4f8b\u3082\u3042\u308b\u3002<strong>\u540c\u3058\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u3067\u3001\u8133\u75c7\u3092\u4f34\u308f\u306a\u3044\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4\uff08\u30b7\u30ca\u30d7\u30b9\u524d\u578b\uff09\u3092\u5448\u3059\u308b\u5bb6\u7cfb\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u8868\u73fe\u578b\u306e\u5e45\u306f\u5e83\u3044\u3002<\/strong>\u306a\u304a SLC25A1 \u306f22q11.2\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001D-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c71\u578b\uff08<em>D2HGDH<\/em>\u3001\u6f5c\u6027\uff09\u3001\u540c2\u578b\uff08<em>IDH2<\/em>\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u9855\u6027\u306e\u6a5f\u80fd\u7372\u5f97\u5909\u7570\uff09\u3001L-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7\uff08<em>L2HGDH<\/em>\u3001\u6f5c\u6027\u3001\u7de9\u5f90\u9032\u884c\u6027\u306e\u767d\u8cea\u8133\u75c7\uff09\u3001\u304a\u3088\u3073\u65b0\u751f\u5150\u671f\u767a\u75c7\u306e\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u304c\u6319\u304c\u308b\u3002<strong>D\u578b\u30fbL\u578b\u306e\u540c\u6642\u4e0a\u6607\u3068\u5c3f\u4e2d\u30af\u30a8\u30f3\u9178\u4f4e\u5024\u304c\u672c\u75c7\u3092\u793a\u5506\u3059\u308b\u304c\u3001IDH2 \u578b\u3067\u306f\u6b21\u5b50\u518d\u767a\u7387\u304c\u307b\u307c0%\u3068\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>\u3053\u306e\u75c5\u6c17\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>\u540d\u524d\u306e\u4f3c\u305f2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7\u306e\u306a\u304b\u306b\u306f\u3001\u5076\u767a\u7684\u306b\u8d77\u3053\u308b\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\uff09\u3082\u306e\u3082\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306e\u518d\u767a\u7387\u306f\u3054\u304f\u308f\u305a\u304b\u3067\u3059\u3002<strong>\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. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u8133\u5ba4\u306e\u62e1\u5927\u3084\u8133\u6881\u306e\u7570\u5e38\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u3060\u3051\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u598a\u5a20\u4e2d\u306e\u907a\u4f1d\u5b66\u7684\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. \u540d\u524d\u306e\u4f3c\u305f\u300c2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7\u300d\u3068\u306f\u9055\u3046\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3002<strong>D\u578b\u3060\u3051\u3001L\u578b\u3060\u3051\u304c\u5897\u3048\u308b\u75c5\u6c17\u306f\u3001\u305d\u308c\u305e\u308c\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u7d4c\u904e\u3082\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u3053\u306e\u75c5\u6c17\u306f D\u578b\u3068L\u578b\u306e\u4e21\u65b9\u304c\u5897\u3048\u3001\u65b0\u751f\u5150\u671f\u304b\u3089\u91cd\u3044\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u307e\u305f\u3001\u540c\u3058 SLC25A1 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3001\u7b4b\u529b\u306e\u4f4e\u4e0b\u304c\u4e2d\u5fc3\u306e\u8efd\u3044\u75c5\u6c17\u306b\u306a\u308b\u65b9\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u751f\u307e\u308c\u305f\u3042\u3068\u3001\u3069\u306e\u3088\u3046\u306a\u7d4c\u904e\u306b\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u591a\u304f\u306f\u65b0\u751f\u5150\u671f\u304b\u3089\u3051\u3044\u308c\u3093\u3084\u547c\u5438\u306e\u5f31\u3055\u304c\u3042\u308a\u3001\u91cd\u3044\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3044\u307e\u3059\u3002\u4e73\u5150\u671f\u306b\u4ea1\u304f\u306a\u308b\u304a\u5b50\u3055\u307e\u3082\u3044\u307e\u3059\u3002<\/strong>\u4e00\u65b9\u3067\u3001\u3088\u308a\u9577\u304f\u751f\u5b58\u3057\u3066\u3044\u308b\u65b9\u306e\u5831\u544a\u3082\u3042\u308a\u3001\u7d4c\u904e\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u4e3b\u6cbb\u533b\u3068\u3088\u304f\u8a71\u3057\u5408\u3044\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u307e\u306b\u5408\u3063\u305f\u652f\u63f4\u3092\u8003\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\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>Nota B, Struys EA, Pop A, et al. Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. <em>Am J Hum Genet<\/em>. 2013;92(4):627-631.<\/li>\n\n\n\n<li>Edvardson S, Porcelli V, Jalas C, et al. Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. <em>J Med Genet<\/em>. 2013;50(4):240-245.<\/li>\n\n\n\n<li>Pop A, Williams M, Struys EA, et al. An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. <em>J Inherit Metab Dis<\/em>. 2018;41(2):169-180.<\/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 #615182 Combined D-2- and L-2-hydroxyglutaric aciduria. 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-147895","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\/147895","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\/147895\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147895"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}