{"id":147433,"date":"2026-11-03T03:46:24","date_gmt":"2026-11-02T18:46:24","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-and-homocystinuria-type-cbld-mmadhc\/"},"modified":"2026-11-03T03:46:24","modified_gmt":"2026-11-02T18:46:24","slug":"methylmalonic-aciduria-and-homocystinuria-type-cbld-mmadhc","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-and-homocystinuria-type-cbld-mmadhc\/","title":{"rendered":"\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u30fb\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7 cblD\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u30fb\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7 cblD\u578b\u306f\u3001<strong>\u30d3\u30bf\u30df\u30f3B12\uff08\u30b3\u30d0\u30e9\u30df\u30f3\uff09\u3092\u4f53\u306e\u306a\u304b\u3067\u4f7f\u3048\u308b\u5f62\u306b\u5909\u3048\u308b\u3057\u304f\u307f\u304c\u3046\u307e\u304f\u306f\u305f\u3089\u304b\u306a\u3044\u305f\u3081\u306b\u3001\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u3084\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3068\u3044\u3046\u7269\u8cea\u304c\u305f\u307e\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>MMADHC<\/strong>\uff082q23.2\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\">\u30d3\u30bf\u30df\u30f3B12\u306e\u4ee3\u8b1d\u7570\u5e38\u306b\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3054\u3068\u306b cblC\u578b\u30fbcblD\u578b\u30fbcblF\u578b\u306a\u3069\u3044\u304f\u3064\u304b\u306e\u578b\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u306a\u304b\u3067 cblD\u578b\u306f<strong>\u5831\u544a\u4f8b\u304c\u975e\u5e38\u306b\u5c11\u306a\u3044\u307e\u308c\u306a\u578b<\/strong>\u3067\u3059\u3002\u767a\u75c7\u306e\u6642\u671f\u306f\u65b0\u751f\u5150\u671f\u304b\u3089\u5b66\u7ae5\u671f\u4ee5\u964d\u307e\u3067\u5e45\u304c\u3042\u308a\u3001<strong>\u767a\u9054\u306e\u9045\u308c\u3001\u7b4b\u529b\u306e\u4f4e\u4e0b\u3001\u3051\u3044\u308c\u3093\u3001\u8ca7\u8840<\/strong>\u306a\u3069\u3067\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">cblD\u578b\u306e\u3044\u3061\u3070\u3093\u306e\u7279\u5fb4\u306f\u3001<strong>\u540c\u3058 MMADHC \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3082\u3001\u5909\u5316\u306e\u5834\u6240\u306b\u3088\u3063\u3066\u300c\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u3068\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u306e\u4e21\u65b9\u304c\u305f\u307e\u308b\u578b\u300d\u300c\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3060\u3051\u304c\u305f\u307e\u308b\u578b\u300d\u300c\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u3060\u3051\u304c\u305f\u307e\u308b\u578b\u300d\u306e3\u3064\u306b\u5206\u304b\u308c\u308b<\/strong>\u3053\u3068\u3067\u3059\u3002\u3053\u306e\u30da\u30fc\u30b8\u306e\u75c5\u540d\u306f\u4e21\u65b9\u304c\u305f\u307e\u308b\u578b\u3092\u6307\u3057\u307e\u3059\u304c\u3001\u540c\u3058\u907a\u4f1d\u5b50\u306b\u3088\u308b3\u3064\u306e\u578b\u3092\u3042\u308f\u305b\u3066\u8aac\u660e\u3057\u307e\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>MMADHC<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u306e\u306a\u304b\u306b\u53d6\u308a\u8fbc\u307e\u308c\u305f\u30d3\u30bf\u30df\u30f3B12\u3092\u3001<strong>\u306f\u305f\u3089\u304f\u5834\u6240\u3054\u3068\u306b\u632f\u308a\u5206\u3051\u308b\u300c\u4ea4\u901a\u6574\u7406\u5f79\u300d\u306e\u305f\u3093\u3071\u304f\u8cea<\/strong>\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u30d3\u30bf\u30df\u30f3B12\u306f\u7d30\u80de\u306e\u306a\u304b\u30672\u3064\u306e\u5f62\u306b\u5909\u3048\u3089\u308c\u3066\u4f7f\u308f\u308c\u307e\u3059\u3002<strong>\u3072\u3068\u3064\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3067\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u306e\u5206\u89e3\u3092\u52a9\u3051\u308b\u5f62\uff08\u30a2\u30c7\u30ce\u30b7\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\uff09\u3001\u3082\u3046\u3072\u3068\u3064\u306f\u7d30\u80de\u8cea\u3067\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3092\u30e1\u30c1\u30aa\u30cb\u30f3\u306b\u623b\u3059\u53cd\u5fdc\u3092\u52a9\u3051\u308b\u5f62\uff08\u30e1\u30c1\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\uff09<\/strong>\u3067\u3059\u3002MMADHC \u306e\u306f\u305f\u3089\u304d\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u3053\u306e\u632f\u308a\u5206\u3051\u304c\u3067\u304d\u305a\u3001<strong>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u304c\u5206\u89e3\u3055\u308c\u305a\u306b\u305f\u307e\u308a\u3001\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3082\u9ad8\u304f\u306a\u308a\u307e\u3059<\/strong>\u3002\u3069\u3061\u3089\u306e\u7d4c\u8def\u304c\u5f37\u304f\u59a8\u3052\u3089\u308c\u308b\u304b\u306b\u3088\u3063\u3066\u3001\u4e0a\u3067\u8ff0\u3079\u305f3\u3064\u306e\u578b\u304c\u751f\u3058\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>\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\u591a\u304f\u306e\u65b9\u306b\u307f\u3089\u308c\u3001\u7a0b\u5ea6\u306f\u3055\u307e\u3056\u307e\u3067\u3059<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\u3001\u3051\u3044\u308c\u3093\u3001\u3075\u3089\u3064\u304d\uff08\u904b\u52d5\u5931\u8abf\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u5de8\u8d64\u82bd\u7403\u6027\u8ca7\u8840<\/strong>\uff1a\u8d64\u8840\u7403\u304c\u5927\u304d\u304f\u6570\u304c\u5c11\u306a\u304f\u306a\u308b\u8ca7\u8840\u3067\u3001<strong>\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u304c\u305f\u307e\u308b\u578b\u3067\u76ee\u7acb\u3061\u307e\u3059<\/strong><\/li>\n\n\n\n<li>\u54fa\u4e73\u4e0d\u826f\u3001\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044<\/li>\n\n\n\n<li><strong>\u4ee3\u8b1d\u306e\u6025\u306a\u60aa\u5316\uff08\u5614\u5410\u3001\u610f\u8b58\u306e\u4f4e\u4e0b\u3001\u8840\u6db2\u304c\u9178\u6027\u306b\u50be\u304f\uff09<\/strong>\uff1a<strong>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u304c\u305f\u307e\u308b\u578b\u3067\u3001\u611f\u67d3\u75c7\u306a\u3069\u3092\u304d\u3063\u304b\u3051\u306b\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/strong><\/li>\n\n\n\n<li>\u884c\u52d5\u306e\u554f\u984c\u3001\u8996\u529b\u306e\u4f4e\u4e0b\u306a\u3069\u304c\u5e74\u9577\u306b\u306a\u3063\u3066\u304b\u3089\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8840\u6813\uff08\u8840\u306e\u304b\u305f\u307e\u308a\uff09\u304c\u3067\u304d\u3084\u3059\u304f\u306a\u308b\u3053\u3068<\/strong>\uff1a\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u304c\u9ad8\u3044\u72b6\u614b\u304c\u7d9a\u304f\u3068\u8d77\u3053\u308a\u3048\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\">\u8840\u6db2\u30fb\u5c3f\u306e\u691c\u67fb\u3067\u3001<strong>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u306e\u5897\u52a0\u3001\u7dcf\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u306e\u5897\u52a0\u3001\u30e1\u30c1\u30aa\u30cb\u30f3\u306e\u4f4e\u4e0b<\/strong>\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u306e\u305f\u307e\u308b\u578b\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001<strong>\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3060\u3051\u304c\u305f\u307e\u308b\u578b\u306f\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u898b\u3064\u304b\u308a\u306b\u304f\u3044<\/strong>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u30d3\u30bf\u30df\u30f3B12\u4ee3\u8b1d\u7570\u5e38\u306b\u306f cblC\u578b\u306a\u3069\u75c7\u72b6\u306e\u4f3c\u305f\u578b\u304c\u8907\u6570\u3042\u308b\u305f\u3081\u3001\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001cblD\u578b\u3067\u306f <strong>MMADHC<\/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>\u578b\u306b\u3088\u3063\u3066\u6cbb\u7642\u306e\u7d44\u307f\u7acb\u3066\u3084\u898b\u901a\u3057\u304c\u5909\u308f\u308a\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3059\u308b\u305f\u3081\u306b\u3082\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>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u304f\u8a3a\u65ad\u3057\u3066\u6cbb\u7642\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u75c7\u72b6\u3092\u3084\u308f\u3089\u3052\u305f\u308a\u3001\u60aa\u5316\u3092\u9632\u3044\u3060\u308a\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u3059\u3067\u306b\u8d77\u304d\u305f\u795e\u7d4c\u306e\u969c\u5bb3\u304c\u5143\u306b\u623b\u3089\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u6cbb\u7642\u306f\u4ee3\u8b1d\u306e\u5c02\u9580\u533b\u306e\u3082\u3068\u3067\u3001\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u7d9a\u3051\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d3\u30bf\u30df\u30f3B12\uff08\u30d2\u30c9\u30ed\u30ad\u30bd\u30b3\u30d0\u30e9\u30df\u30f3\uff09\u306e\u6ce8\u5c04<\/strong>\uff1a\u6cbb\u7642\u306e\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30d9\u30bf\u30a4\u30f3<\/strong>\uff1a\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3092\u30e1\u30c1\u30aa\u30cb\u30f3\u306b\u623b\u3059\u5225\u306e\u7d4c\u8def\u3092\u52a9\u3051\u3001\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3092\u4e0b\u3052\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8449\u9178\uff08\u307e\u305f\u306f\u30d5\u30a9\u30ea\u30f3\u9178\uff09\u3001\u30ab\u30eb\u30cb\u30c1\u30f3<\/strong>\u306e\u88dc\u5145<\/li>\n\n\n\n<li><strong>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u304c\u305f\u307e\u308b\u578b\u3067\u306f\u3001\u305f\u3093\u3071\u304f\u8cea\u306e\u6442\u308a\u65b9\u306e\u8abf\u6574<\/strong>\uff1a\u6804\u990a\u58eb\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u3001\u6210\u9577\u306b\u5fc5\u8981\u306a\u91cf\u3092\u4fdd\u3061\u307e\u3059<\/li>\n\n\n\n<li><strong>\u4f53\u8abf\u3092\u304f\u305a\u3057\u305f\u3068\u304d\u306e\u65e9\u3081\u306e\u53d7\u8a3a\u3068\u70b9\u6ef4<\/strong>\uff1a\u4ee3\u8b1d\u306e\u6025\u306a\u60aa\u5316\u3092\u9632\u304e\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u652f\u63f4\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3001\u3051\u3044\u308c\u3093\u306e\u6cbb\u7642\u3001\u773c\u79d1\u3067\u306e\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf<\/strong><\/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>MMADHC<\/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>MMADHC<\/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<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n<p class=\"wp-block-paragraph\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\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\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\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>MMADHC<\/strong> \u304c\u30b3\u30fc\u30c9\u3059\u308b\u305f\u3093\u3071\u304f\u8cea\uff08CblD\uff09\u306f\u3001N\u672b\u7aef\u306b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u79fb\u884c\u30b7\u30b0\u30ca\u30eb\u3092\u3082\u3061\u3001\u7d30\u80de\u8cea\u3067\u306f MMACHC\uff08CblC\uff09\u3068\u76f8\u4e92\u4f5c\u7528\u3057\u3066\u3001<strong>\u8131\u30a2\u30eb\u30ad\u30eb\u5316\u3055\u308c\u305f\u30b3\u30d0\u30e9\u30df\u30f3\u3092\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u30a2\u30c7\u30ce\u30b7\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\u5408\u6210\uff08\u30e1\u30c1\u30eb\u30de\u30ed\u30cb\u30ebCoA\u30e0\u30bf\u30fc\u30bc\u306e\u88dc\u9175\u7d20\uff09\u3068\u3001\u7d30\u80de\u8cea\u306e\u30e1\u30c1\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\u5408\u6210\uff08\u30e1\u30c1\u30aa\u30cb\u30f3\u5408\u6210\u9175\u7d20\u306e\u88dc\u9175\u7d20\uff09\u3078\u632f\u308a\u5206\u3051\u308b\u5206\u5c90\u70b9<\/strong>\u306b\u4f4d\u7f6e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>cblD\u578b\u306f\u30011\u3064\u306e\u907a\u4f1d\u5b50\u30673\u3064\u306e\u751f\u5316\u5b66\u7684\u8868\u73fe\u578b\u3092\u793a\u3059\u70b9\u3067\u3001\u30d3\u30bf\u30df\u30f3B12\u4ee3\u8b1d\u7570\u5e38\u306e\u306a\u304b\u3067\u3082\u7279\u7570\u3067\u3042\u308b<\/strong>\u2014\u2014\u2460\u4e21\u7d4c\u8def\u304c\u969c\u5bb3\u3055\u308c\u308b\u8907\u5408\u578b\uff08\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\uff0b\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\uff09\u3001\u2461\u30e1\u30c1\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\u7d4c\u8def\u306e\u307f\u304c\u969c\u5bb3\u3055\u308c\u308b\u5358\u72ec\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u578b\u3001\u2462\u30a2\u30c7\u30ce\u30b7\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\u7d4c\u8def\u306e\u307f\u304c\u969c\u5bb3\u3055\u308c\u308b\u5358\u72ec\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u578b\u3067\u3042\u308b\u3002<strong>N\u672b\u7aef\u5074\u306e\u77ed\u7e2e\u578b\u5909\u7570\u3067\u306f\u4e0b\u6d41\u306e\u958b\u59cb\u30b3\u30c9\u30f3\u304b\u3089\u7ffb\u8a33\u304c\u518d\u958b\u3055\u308c\u3001\u7d30\u80de\u8cea\u6a5f\u80fd\u304c\u4fdd\u305f\u308c\u308b\u305f\u3081\u5358\u72ec\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u578b\u3068\u306a\u308a\u3001C\u672b\u7aef\u5074\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306a\u3069\u3067\u306f\u5358\u72ec\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u578b\u3001\u4e21\u7d4c\u8def\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u5909\u7570\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u306f\u8907\u5408\u578b\u306b\u306a\u308b<\/strong>\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u60a3\u8005\u6570\u306f\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u907a\u4f1d\u578b\u3068\u81e8\u5e8a\u7d4c\u904e\u306e\u5bfe\u5fdc\u306f\u306a\u304a\u84c4\u7a4d\u6bb5\u968e\u306b\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001cblC\u578b\uff08<em>MMACHC<\/em>\u3001\u8907\u5408\u578b\u3067\u3082\u3063\u3068\u3082\u983b\u5ea6\u304c\u9ad8\u3044\uff09\u3001cblF\u578b\uff08<em>LMBRD1<\/em>\uff09\u3001cblJ\u578b\uff08<em>ABCD4<\/em>\uff09\u3001\u5358\u72ec\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u3092\u793a\u3059 cblE\u578b\uff08<em>MTRR<\/em>\uff09\u30fbcblG\u578b\uff08<em>MTR<\/em>\uff09\u30fbMTHFR\u6b20\u640d\u75c7\u3001\u5358\u72ec\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u3092\u793a\u3059\u30e0\u30bf\u30fc\u30bc\u6b20\u640d\u75c7\uff08<em>MMUT<\/em>\uff09\u3084 cblA\u578b\u30fbcblB\u578b\u304c\u6319\u304c\u308b\u3002<strong>\u751f\u5316\u5b66\u6240\u898b\u3060\u3051\u3067\u306f\u578b\u3092\u533a\u5225\u3057\u306b\u304f\u304f\u3001\u6cbb\u7642\u65b9\u91dd\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u305f\u3081\u306b\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u91cd\u8981\u3067\u3042\u308b\u3002<\/strong>\u6bcd\u4f53\u306e\u30d3\u30bf\u30df\u30f3B12\u6b20\u4e4f\u306b\u3088\u308b\u4e73\u5150\u306e\u4e8c\u6b21\u6027\u7570\u5e38\u3082\u9664\u5916\u3092\u8981\u3059\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>\u540c\u3058\u3054\u5bb6\u65cf\u306e\u306a\u304b\u3067\u306f\u3001\u901a\u5e38\u306f\u540c\u3058\u578b\uff08\u8907\u5408\u578b\u30fb\u5358\u72ec\u578b\uff09\u306b\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u304c\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u5dee\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\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>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u3068\u306a\u308b\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. \u30d3\u30bf\u30df\u30f3B12\u3092\u305f\u304f\u3055\u3093\u6442\u308c\u3070\u9632\u3052\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u98df\u4e8b\u3084\u30b5\u30d7\u30ea\u30e1\u30f3\u30c8\u3067\u30d3\u30bf\u30df\u30f3B12\u3092\u6442\u3063\u3066\u3082\u3001\u4f53\u306e\u306a\u304b\u3067\u4f7f\u3048\u308b\u5f62\u306b\u5909\u3048\u308b\u3057\u304f\u307f\u304c\u306f\u305f\u3089\u304b\u306a\u3044\u305f\u3081\u3001\u305d\u308c\u3060\u3051\u3067\u306f\u9632\u3052\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u3067\u306f\u3001\u533b\u5e2b\u306e\u7ba1\u7406\u306e\u3082\u3068\u3067\u5927\u91cf\u306e\u30d3\u30bf\u30df\u30f3B12\u3092\u6ce8\u5c04\u3067\u88dc\u3044\u3001\u307b\u304b\u306e\u85ac\u3084\u98df\u4e8b\u306e\u8abf\u6574\u3068\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. cblC\u578b\u306a\u3069\u3001\u307b\u304b\u306e\u578b\u3068\u306f\u4f55\u304c\u9055\u3044\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308a\u307e\u3059\u3002cblC\u578b\u306f MMACHC \u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3001\u3053\u306e\u4ef2\u9593\u306e\u306a\u304b\u3067\u306f\u3082\u3063\u3068\u3082\u591a\u3044\u578b\u3067\u3059\u3002<strong>cblD\u578b\u306f MMADHC \u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3001\u5909\u5316\u306e\u5834\u6240\u306b\u3088\u3063\u3066\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u3060\u3051\u3001\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3060\u3051\u3001\u307e\u305f\u306f\u305d\u306e\u4e21\u65b9\u304c\u305f\u307e\u308b\u3068\u3044\u3046\u70b9\u304c\u7279\u5fb4\u3067\u3059\u3002<\/strong><\/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>Coelho D, Suormala T, Stucki M, et al. Gene identification for the cblD defect of vitamin B12 metabolism. <em>N Engl J Med<\/em>. 2008;358(14):1454-1464.<\/li>\n\n\n\n<li>Suormala T, Baumgartner MR, Coelho D, et al. The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. <em>J Biol Chem<\/em>. 2004;279(41):42742-42749.<\/li>\n\n\n\n<li>Stucki M, Coelho D, Suormala T, et al. Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. <em>Hum Mol Genet<\/em>. 2012;21(6):1410-1418.<\/li>\n\n\n\n<li>Huemer M, Diodato D, Schwahn B, et al. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. <em>J Inherit Metab Dis<\/em>. 2017;40(1):21-48.<\/li>\n\n\n\n<li>OMIM #277410 Methylmalonic aciduria and homocystinuria, cblD type. 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-147433","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\/147433","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\/147433\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147433"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}