{"id":147391,"date":"2026-11-03T03:46:18","date_gmt":"2026-11-02T18:46:18","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hmg-coa-synthase-2-deficiency-hmgcs2\/"},"modified":"2026-11-03T03:46:18","modified_gmt":"2026-11-02T18:46:18","slug":"hmg-coa-synthase-2-deficiency-hmgcs2","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hmg-coa-synthase-2-deficiency-hmgcs2\/","title":{"rendered":"HMG-CoA\u5408\u6210\u9175\u7d202\u6b20\u640d\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">HMG-CoA\u5408\u6210\u9175\u7d202\u6b20\u640d\u75c7\u306f\u3001<strong>\u7a7a\u8179\u304c\u7d9a\u3044\u305f\u3068\u304d\u306b\u3001\u8102\u80aa\u304b\u3089\u30a8\u30cd\u30eb\u30ae\u30fc\u306e\u3082\u3068\u3068\u306a\u308b\u300c\u30b1\u30c8\u30f3\u4f53\u300d\u3092\u3064\u304f\u308c\u306a\u304f\u306a\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>HMGCS2<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002\u300c\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2HMG-CoA\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u3075\u3060\u3093\u306f<strong>\u307e\u3063\u305f\u304f\u75c7\u72b6\u304c\u306a\u304f\u3001\u5143\u6c17\u306b\u904e\u3054\u3057\u3066\u3044\u308b<\/strong>\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u3068\u3053\u308d\u304c\u3001<strong>\u80c3\u8178\u708e\u3084\u767a\u71b1\u3067\u98df\u4e8b\u304c\u3068\u308c\u306a\u3044\u3001\u9577\u3044\u6642\u9593\u4f55\u3082\u98df\u3079\u3066\u3044\u306a\u3044<\/strong>\u3068\u3044\u3063\u305f\u304d\u3063\u304b\u3051\u304c\u3042\u308b\u3068\u3001<strong>\u4f4e\u8840\u7cd6\u3001\u3050\u3063\u305f\u308a\u3059\u308b\u3001\u610f\u8b58\u304c\u4f4e\u4e0b\u3059\u308b\u3068\u3044\u3063\u305f\u6025\u306a\u767a\u4f5c<\/strong>\u3092\u8d77\u3053\u3057\u307e\u3059\u3002<strong>\u591a\u304f\u306f\u4e73\u5150\u671f\u304b\u3089\u5e7c\u5150\u671f\u306e\u306f\u3058\u3081\uff08\u304a\u304a\u3080\u306d\u751f\u5f8c\u534a\u5e74\u301c2\u6b73\u3054\u308d\uff09\u306b\u3001\u521d\u3081\u3066\u306e\u767a\u4f5c\u3067\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/strong><\/p>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75c5\u6c17\u306f<strong>\u7a7a\u8179\u3092\u907f\u3051\u308b\u3053\u3068\u3067\u767a\u4f5c\u3092\u304b\u306a\u308a\u9632\u3052\u308b<\/strong>\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4e00\u65b9\u3067\u3001\u8a3a\u65ad\u304c\u3064\u304f\u524d\u306e\u767a\u4f5c\u304c\u91cd\u3044\u3068\u3001\u8133\u306b\u5f8c\u907a\u75c7\u304c\u6b8b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<strong>\u3042\u3089\u304b\u3058\u3081\u75c5\u6c17\u3092\u77e5\u308a\u3001\u4f53\u8abf\u3092\u5d29\u3057\u305f\u3068\u304d\u306e\u5bfe\u5fdc\u3092\u6c7a\u3081\u3066\u304a\u304f\u3053\u3068\u304c\u3001\u304a\u5b50\u3055\u307e\u3092\u5b88\u308b\u3044\u3061\u3070\u3093\u306e\u624b\u7acb\u3066\u3067\u3059\u3002<\/strong><\/p>\n\n\n<p class=\"wp-block-paragraph\">HMGCS2 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class=\"wp-block-paragraph\">\u98df\u4e8b\u3092\u3068\u3089\u306a\u3044\u6642\u9593\u304c\u9577\u304f\u306a\u308b\u3068\u3001\u304b\u3089\u3060\u306f<strong>\u305f\u304f\u308f\u3048\u305f\u8102\u80aa\u3092\u5206\u89e3\u3057\u3001\u809d\u81d3\u3067\u30b1\u30c8\u30f3\u4f53\u3092\u3064\u304f\u3063\u3066\u3001\u8133\u3084\u7b4b\u8089\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u3068\u3057\u3066\u4f7f\u3044\u307e\u3059<\/strong>\u3002\u3068\u304f\u306b\u8133\u306f\u3001\u30d6\u30c9\u30a6\u7cd6\u304c\u8db3\u308a\u306a\u304f\u306a\u3063\u305f\u3068\u304d\u306b\u30b1\u30c8\u30f3\u4f53\u3092\u5927\u5207\u306a\u71c3\u6599\u306b\u3057\u3066\u3044\u307e\u3059\u3002HMG-CoA\u5408\u6210\u9175\u7d202\u306f\u3001<strong>\u3053\u306e\u30b1\u30c8\u30f3\u4f53\u3092\u3064\u304f\u308b\u6d41\u308c\u306e\u6700\u521d\u306e\u6bb5\u968e\u3092\u53d7\u3051\u6301\u3064\u9175\u7d20<\/strong>\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u9175\u7d20\u304c\u306f\u305f\u3089\u304b\u306a\u3044\u3068\u3001<strong>\u7a7a\u8179\u6642\u306b\u30b1\u30c8\u30f3\u4f53\u304c\u3064\u304f\u308c\u305a\u3001\u30d6\u30c9\u30a6\u7cd6\u3092\u4f7f\u3044\u5207\u3063\u305f\u3068\u3053\u308d\u3067\u8133\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u304c\u4e0d\u8db3\u3057\u307e\u3059<\/strong>\u3002\u3055\u3089\u306b\u3001\u5206\u89e3\u3055\u308c\u305f\u8102\u80aa\u304c\u4f7f\u308f\u308c\u305a\u306b\u809d\u81d3\u306b\u305f\u307e\u308a\u3001<strong>\u809d\u81d3\u306e\u816b\u308c\uff08\u8102\u80aa\u809d\uff09<\/strong>\u3092\u8d77\u3053\u3057\u307e\u3059\u3002\u5c0f\u3055\u306a\u304a\u5b50\u3055\u307e\u306f\u5927\u4eba\u3088\u308a\u3082\u30d6\u30c9\u30a6\u7cd6\u306e\u305f\u304f\u308f\u3048\u304c\u5c11\u306a\u3044\u305f\u3081\u3001<strong>\u77ed\u3044\u6642\u9593\u306e\u7a7a\u8179\u3067\u3082\u767a\u4f5c\u304c\u8d77\u3053\u308a\u3084\u3059\u304f\u306a\u308a\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>\u7a7a\u8179\u3084\u4f53\u8abf\u4e0d\u826f\u3092\u304d\u3063\u304b\u3051\u306b\u3057\u305f\u6025\u306a\u767a\u4f5c<\/strong>\uff1a<strong>\u3053\u306e\u75c5\u6c17\u306e\u3082\u3063\u3068\u3082\u5927\u5207\u306a\u7279\u5fb4\u3067\u3059<\/strong>\u3002\u80c3\u8178\u708e\u3001\u767a\u71b1\u3001\u5614\u5410\u3001\u9577\u6642\u9593\u306e\u7d76\u98df\u306a\u3069\u306e\u3042\u3068\u306b\u8d77\u3053\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u4f4e\u8840\u7cd6<\/strong>\uff1a\u3050\u3063\u305f\u308a\u3059\u308b\u3001\u9854\u8272\u304c\u60aa\u3044\u3001\u53cd\u5fdc\u304c\u920d\u3044\u306a\u3069<\/li>\n\n\n\n<li><strong>\u610f\u8b58\u306e\u4f4e\u4e0b\u3001\u3051\u3044\u308c\u3093<\/strong>\uff1a\u91cd\u3044\u5834\u5408\u306f\u660f\u7761\u306b\u81f3\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5614\u5410\u3001\u547c\u5438\u304c\u901f\u304f\u6df1\u304f\u306a\u308b<\/strong>\uff08\u8840\u6db2\u304c\u9178\u6027\u306b\u50be\u304f\u3053\u3068\u306b\u3088\u308b\uff09<\/li>\n\n\n\n<li><strong>\u809d\u81d3\u306e\u816b\u308c\uff08\u809d\u816b\u5927\uff09<\/strong>\uff1a\u767a\u4f5c\u306e\u3068\u304d\u306b\u76ee\u7acb\u3061\u3001\u8102\u80aa\u809d\u3092\u4f34\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u4f5c\u3068\u767a\u4f5c\u306e\u3042\u3044\u3060\u306f\u3001\u307b\u3068\u3093\u3069\u75c7\u72b6\u304c\u3042\u308a\u307e\u305b\u3093<\/strong><\/li>\n\n\n\n<li>\u91cd\u3044\u767a\u4f5c\u3084\u9577\u5f15\u304f\u767a\u4f5c\u306e\u3042\u3068\u306b\u306f\u3001<strong>\u767a\u9054\u306e\u9045\u308c\u306a\u3069\u306e\u5f8c\u907a\u75c7<\/strong>\u304c\u6b8b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n<p class=\"wp-block-paragraph\">\u5e74\u9f62\u304c\u4e0a\u304c\u308a\u3001\u7a7a\u8179\u306b\u8010\u3048\u3089\u308c\u308b\u6642\u9593\u304c\u9577\u304f\u306a\u308b\u306b\u3064\u308c\u3066\u3001<strong>\u767a\u4f5c\u306f\u8d77\u3053\u308a\u306b\u304f\u304f\u306a\u308b\u50be\u5411<\/strong>\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u5927\u304d\u304f\u306a\u3063\u3066\u304b\u3089\u3082\u3001\u5f37\u3044\u4f53\u8abf\u4e0d\u826f\u306e\u3068\u304d\u306b\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u767a\u4f5c\u306e\u3068\u304d\u306e\u8840\u6db2\u30fb\u5c3f\u306e\u691c\u67fb\u3067\u3001<strong>\u4f4e\u8840\u7cd6\u304c\u3042\u308b\u306e\u306b\u30b1\u30c8\u30f3\u4f53\u304c\u5c11\u306a\u3044\uff08\u4f4e\u30b1\u30c8\u30f3\u6027\u4f4e\u8840\u7cd6\uff09<\/strong>\u3053\u3068\u304c\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u3075\u3064\u3046\u306f\u7a7a\u8179\u3067\u4f4e\u8840\u7cd6\u306b\u306a\u308b\u3068\u3001\u304b\u3089\u3060\u306f\u30b1\u30c8\u30f3\u4f53\u3092\u5927\u91cf\u306b\u3064\u304f\u308b\u305f\u3081\u3001<strong>\u300c\u30b1\u30c8\u30f3\u4f53\u304c\u5897\u3048\u3066\u3044\u306a\u3044\u300d\u3053\u3068\u81ea\u4f53\u304c\u91cd\u8981\u306a\u30b5\u30a4\u30f3<\/strong>\u3067\u3059\u3002\u540c\u6642\u306b\u3001\u8840\u6db2\u4e2d\u306e\u904a\u96e2\u8102\u80aa\u9178\u306f\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u767a\u4f5c\u6642\u306e<strong>\u5c3f\u306e\u6709\u6a5f\u9178\u5206\u6790<\/strong>\u3067\u3001\u3053\u306e\u75c5\u6c17\u306b\u7279\u5fb4\u7684\u306a\u7269\u8cea\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u8a3a\u65ad\u306e\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001<strong>\u767a\u4f5c\u306e\u306a\u3044\u3068\u304d\u306e\u691c\u67fb\u3067\u306f\u7570\u5e38\u304c\u51fa\u306b\u304f\u304f<\/strong>\u3001\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08\u751f\u307e\u308c\u3066\u3059\u3050\u306e\u8840\u6db2\u691c\u67fb\uff09\u3067\u3082\u898b\u3064\u3051\u306b\u304f\u3044\u75c5\u6c17\u3067\u3059\u3002\u8102\u80aa\u9178\u306e\u5206\u89e3\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u3044\u75c5\u6c17\u306a\u3069\u3001\u4f3c\u305f\u75c7\u72b6\u306e\u75c5\u6c17\u3068\u306e\u533a\u5225\u3082\u5fc5\u8981\u3067\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\u3001\u3053\u306e\u75c5\u6c17\u3067\u306f <strong>HMGCS2<\/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>\u3075\u3060\u3093\u306e\u691c\u67fb\u3067\u7570\u5e38\u304c\u51fa\u306b\u304f\u3044\u75c5\u6c17\u3060\u304b\u3089\u3053\u305d\u3001\u907a\u4f1d\u5b50\u3067\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306b\u5927\u304d\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u3054\u304d\u3087\u3046\u3060\u3044\u304c\u307e\u3060\u767a\u4f5c\u3092\u8d77\u3053\u3057\u3066\u3044\u306a\u304f\u3066\u3082\u3001\u8a3a\u65ad\u304c\u3064\u3051\u3070\u4e88\u9632\u306e\u6e96\u5099\u304c\u3067\u304d\u307e\u3059\u3002<\/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\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3057\u304b\u3057\u3001<strong>\u7a7a\u8179\u306e\u6642\u9593\u3092\u3064\u304f\u3089\u306a\u3044\u3053\u3068\u3001\u4f53\u8abf\u3092\u5d29\u3057\u305f\u3068\u304d\u306b\u65e9\u3081\u306b\u30d6\u30c9\u30a6\u7cd6\u3092\u88dc\u3046\u3053\u3068\u3067\u3001\u767a\u4f5c\u306e\u591a\u304f\u306f\u9632\u3050\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001\u65e5\u3005\u306e\u4e88\u9632\u3068\u3001\u767a\u4f5c\u6642\u306e\u901f\u3084\u304b\u306a\u5bfe\u5fdc\u3067\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7a7a\u8179\u3092\u907f\u3051\u308b<\/strong>\uff1a\u5e74\u9f62\u306b\u5408\u308f\u305b\u3066\u98df\u4e8b\u30fb\u6388\u4e73\u306e\u9593\u9694\u304c\u3042\u304d\u3059\u304e\u306a\u3044\u3088\u3046\u306b\u3057\u3001\u591c\u9593\u306e\u9577\u3044\u7d76\u98df\u3092\u907f\u3051\u307e\u3059<\/li>\n\n\n\n<li><strong>\u4f53\u8abf\u4e0d\u826f\u6642\u306e\u65e9\u3081\u306e\u7cd6\u5206\u88dc\u7d66<\/strong>\uff1a\u767a\u71b1\u3001\u5614\u5410\u3001\u4e0b\u75e2\u3067\u98df\u4e8b\u304c\u3068\u308c\u306a\u3044\u3068\u304d\u306f\u3001\u7cd6\u5206\u3092\u542b\u3080\u98f2\u307f\u7269\u3092\u3053\u307e\u3081\u306b\u3068\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u53e3\u304b\u3089\u3068\u308c\u306a\u3044\u3068\u304d\u306f\u65e9\u3081\u306e\u53d7\u8a3a\u3068\u70b9\u6ef4<\/strong>\uff1a\u30d6\u30c9\u30a6\u7cd6\u306e\u70b9\u6ef4\u3067\u3001\u767a\u4f5c\u3092\u9632\u3044\u3060\u308a\u3001\u65e9\u304f\u56de\u5fa9\u3055\u305b\u305f\u308a\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u7dca\u6025\u6642\u306e\u5bfe\u5fdc\u3092\u66f8\u3044\u305f\u66f8\u985e\u306e\u643a\u5e2f<\/strong>\uff1a\u75c5\u540d\u3068\u5fc5\u8981\u306a\u51e6\u7f6e\u3092\u3001\u304b\u304b\u308a\u3064\u3051\u4ee5\u5916\u306e\u533b\u7642\u6a5f\u95a2\u3084\u4fdd\u80b2\u5712\u30fb\u5b66\u6821\u306b\u3082\u4f1d\u3048\u3089\u308c\u308b\u3088\u3046\u306b\u3057\u307e\u3059<\/li>\n\n\n\n<li>\u624b\u8853\u3084\u691c\u67fb\u3067\u7d76\u98df\u304c\u5fc5\u8981\u306a\u3068\u304d\u306f\u3001<strong>\u4e8b\u524d\u306b\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3057\u3001\u70b9\u6ef4\u3067\u7cd6\u5206\u3092\u88dc\u3044\u307e\u3059<\/strong><\/li>\n\n\n\n<li>\u8102\u80aa\u306e\u591a\u3044\u98df\u4e8b\u3092\u63a7\u3048\u308b\u3088\u3046\u6307\u5c0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u98df\u4e8b\u306e\u5185\u5bb9\u306f\u4e3b\u6cbb\u533b\u30fb\u6804\u990a\u58eb\u3068\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044<\/li>\n\n\n\n<li>\u5f8c\u907a\u75c7\u304c\u3042\u308b\u5834\u5408\u306f\u3001<strong>\u767a\u9054\u306e\u652f\u63f4\u3084\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\u3092\u884c\u3044\u307e\u3059<\/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>HMGCS2<\/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\u306e2\u3064\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>HMGCS2<\/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>HMGCS2<\/strong> \u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u578b3-\u30d2\u30c9\u30ed\u30ad\u30b7-3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30ea\u30ebCoA\u5408\u6210\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3001<strong>\u30a2\u30bb\u30c1\u30ebCoA\u3068\u30a2\u30bb\u30c8\u30a2\u30bb\u30c1\u30ebCoA\u304b\u3089HMG-CoA\u3092\u751f\u6210\u3059\u308b\u3001\u30b1\u30c8\u30f3\u4f53\u7523\u751f\u7d4c\u8def\u306e\u5f8b\u901f\u9175\u7d20<\/strong>\u3067\u3042\u308b\u3002\u4e3b\u306b\u809d\u81d3\u3067\u767a\u73fe\u3057\u3001\u7d76\u98df\u3084\u9ad8\u8102\u80aa\u98df\u306e\u72b6\u614b\u3067\u8ee2\u5199\u304c\u8a98\u5c0e\u3055\u308c\u308b\u3002\u7d30\u80de\u8cea\u578b\u306e <em>HMGCS1<\/em>\uff08\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u5408\u6210\u7d4c\u8def\uff09\u3068\u306f\u5225\u306e\u907a\u4f1d\u5b50\u30fb\u5225\u306e\u7d4c\u8def\u3067\u3042\u308a\u3001<strong>HMGCS2 \u306e\u4e21\u30a2\u30ec\u30eb\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308b\u75be\u60a3\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u306e\u306f\u672c\u75c7\u306e\u307f<\/strong>\u3067\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u81e8\u5e8a\u50cf\u306f\u3001\u611f\u67d3\u3084\u7d76\u98df\u3092\u5951\u6a5f\u3068\u3057\u305f\u4f4e\u30b1\u30c8\u30f3\u6027\u4f4e\u8840\u7cd6\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u809d\u816b\u5927\uff08\u8102\u80aa\u809d\uff09\u3001\u8133\u75c7<\/strong>\u3067\u3001\u767a\u75c7\u306f\u4e73\u5150\u671f\u301c\u5e7c\u5150\u671f\u65e9\u671f\u304c\u591a\u3044\u3002<strong>\u30b1\u30c8\u30f3\u4f53\u304c\u4f4e\u3044\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3092\u5448\u3057\u3046\u308b<\/strong>\u70b9\u3001<strong>\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u5206\u6790\u304c\u6b63\u5e38\u307e\u305f\u306f\u975e\u7279\u7570\u7684<\/strong>\u3067\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306e\u691c\u51fa\u304c\u56f0\u96e3\u306a\u70b9\u304c\u3001\u8a3a\u65ad\u4e0a\u306e\u843d\u3068\u3057\u7a74\u3068\u306a\u308b\u3002\u767a\u4f5c\u6642\u306e\u5c3f\u4e2d\u6709\u6a5f\u9178\u3067\u306f\u3001\u30b8\u30ab\u30eb\u30dc\u30f3\u9178\u5c3f\u306b\u52a0\u3048\u3001<strong>4-\u30d2\u30c9\u30ed\u30ad\u30b7-6-\u30e1\u30c1\u30eb-2-\u30d4\u30ed\u30f3<\/strong>\u306a\u3069\u306e\u7279\u5fb4\u7684\u4ee3\u8b1d\u7269\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u3002\u9593\u6b20\u671f\u306b\u306f\u751f\u5316\u5b66\u7684\u7570\u5e38\u304c\u4e4f\u3057\u3044\u305f\u3081\u3001<strong>\u78ba\u5b9a\u306f HMGCS2 \u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306e\u540c\u5b9a\u306b\u3088\u308b<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u540c\u3058\u30b1\u30c8\u30f3\u4f53\u7523\u751f\u7cfb\u306e <strong>HMG-CoA\u30ea\u30a2\u30fc\u30bc\u6b20\u640d\u75c7<\/strong>\uff08<em>HMGCL<\/em>\u3001\u30ed\u30a4\u30b7\u30f3\u4ee3\u8b1d\u7523\u7269\u3092\u4f34\u3046\u6709\u6a5f\u9178\u5c3f\u3092\u793a\u3059\uff09\u3001<strong>\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7<\/strong>\uff08<em>ACADM<\/em>\uff09\u306a\u3069\u306e\u8102\u80aa\u9178\u03b2\u9178\u5316\u7570\u5e38\u75c7\uff08\u591a\u304f\u306f\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u7570\u5e38\u3092\u793a\u3059\uff09\u3001<strong>\u30ab\u30eb\u30cb\u30c1\u30f3\u30d1\u30eb\u30df\u30c8\u30a4\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc1A\u6b20\u640d\u75c7<\/strong>\uff08<em>CPT1A<\/em>\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u4e00\u65b9\u3001\u30b9\u30af\u30b7\u30cb\u30ebCoA:3-\u30b1\u30c8\u9178CoA\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7\uff08<em>OXCT1<\/em>\uff09\u3084\u03b2-\u30b1\u30c8\u30c1\u30aa\u30e9\u30fc\u30bc\u6b20\u640d\u75c7\uff08<em>ACAT1<\/em>\uff09\u306f\u30b1\u30c8\u30f3\u4f53\u5229\u7528\u969c\u5bb3\u3067\u3042\u308a\u3001\u30b1\u30c8\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u3044\u3046\u9006\u306e\u75c5\u614b\u3092\u793a\u3059\u3002<\/strong>\u3044\u305a\u308c\u3082\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u3067\u6b21\u5b50\u518d\u767a\u7387\u306f25%\u3067\u3042\u308b\u304c\u3001\u7ba1\u7406\u65b9\u91dd\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306b\u3088\u308b\u75c5\u578b\u78ba\u5b9a\u304c\u91cd\u8981\u3067\u3042\u308b\u3002<\/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>\u7537\u306e\u5b50\u30fb\u5973\u306e\u5b50\u3067\u78ba\u7387\u306b\u5dee\u306f\u3042\u308a\u307e\u305b\u3093\u3002<strong>\u4e0a\u306e\u304a\u5b50\u3055\u307e\u3067\u8a3a\u65ad\u304c\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u304c\u751f\u307e\u308c\u305f\u3089\u65e9\u3081\u306b\u691c\u67fb\u3068\u4e88\u9632\u306e\u6e96\u5099\u3092\u3059\u308b\u3053\u3068\u3067\u3001\u767a\u4f5c\u3092\u9632\u304e\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u3001\u304a\u8179\u306e\u4e2d\u306b\u3044\u308b\u3042\u3044\u3060\u306f\u75c7\u72b6\u304c\u51fa\u306a\u3044\u305f\u3081\u3001\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u5206\u304b\u308a\u307e\u305b\u3093\u3002<\/strong>\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u5206\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b66\u7684\u306a\u691c\u67fb\u3067\u8abf\u3079\u308b\u3053\u3068\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. \u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u898b\u3064\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u3001\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306f\u898b\u3064\u3051\u306b\u304f\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u3075\u3060\u3093\u306f\u691c\u67fb\u306e\u5024\u306b\u7570\u5e38\u304c\u51fa\u306b\u304f\u3044\u305f\u3081\u3067\u3059\u3002<strong>\u591a\u304f\u306f\u521d\u3081\u3066\u306e\u767a\u4f5c\u3092\u304d\u3063\u304b\u3051\u306b\u8a3a\u65ad\u3055\u308c\u308b\u305f\u3081\u3001\u3054\u5bb6\u65cf\u306b\u60a3\u8005\u3055\u3093\u304c\u3044\u308b\u5834\u5408\u306f\u3001\u65e9\u3081\u306b\u907a\u4f1d\u5b50\u306e\u691c\u67fb\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3075\u3064\u3046\u306e\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u7a7a\u8179\u3092\u907f\u3051\u3001\u4f53\u8abf\u3092\u5d29\u3057\u305f\u3068\u304d\u306b\u65e9\u3081\u306b\u5bfe\u5fdc\u3059\u308b\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u307e\u306f\u3075\u3060\u3093\u901a\u308a\u306e\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002<\/strong>\u6210\u9577\u3068\u3068\u3082\u306b\u767a\u4f5c\u306f\u8d77\u3053\u308a\u306b\u304f\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u8a3a\u65ad\u524d\u306e\u767a\u4f5c\u3067\u5f8c\u907a\u75c7\u304c\u6b8b\u3063\u305f\u5834\u5408\u306f\u3001\u7d99\u7d9a\u3057\u305f\u652f\u63f4\u304c\u5fc5\u8981\u3067\u3059\u3002\u4e3b\u6cbb\u533b\u3068\u3088\u304f\u76f8\u8ac7\u3057\u306a\u304c\u3089\u904e\u3054\u3057\u3066\u304f\u3060\u3055\u3044\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>Conboy E, Vairo F, Schultz M, et al. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #605911 HMG-CoA synthase-2 deficiency. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Thompson GN, Hsu BY, Pitt JJ, Treacy E, Stanley CA. Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase. <em>N Engl J Med<\/em>. 1997;337(17):1203-1207.<\/li>\n\n\n\n<li>Aledo R, Mir C, Dalton RN, et al. Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency. <em>J Inherit Metab Dis<\/em>. 2006;29(1):207-211.<\/li>\n\n\n\n<li>Pitt JJ, Peters H, Boneh A, et al. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations. <em>J Inherit Metab Dis<\/em>. 2015;38(3):459-466.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147391","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\/147391","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\/147391\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147391"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}