{"id":147594,"date":"2026-11-03T03:46:48","date_gmt":"2026-11-02T18:46:48","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gm2-gangliosidosis-ab-variant-gm2a\/"},"modified":"2026-11-03T03:46:48","modified_gmt":"2026-11-02T18:46:48","slug":"gm2-gangliosidosis-ab-variant-gm2a","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gm2-gangliosidosis-ab-variant-gm2a\/","title":{"rendered":"GM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9 AB\u5909\u7570\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">GM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9 AB\u5909\u7570\u578b\u306f\u3001<strong>\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u306a\u304b\u306b\u300cGM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u300d\u3068\u3044\u3046\u8102\u8cea\u304c\u305f\u307e\u308a\u7d9a\u3051\u3001\u4e73\u5150\u671f\u304b\u3089\u795e\u7d4c\u306e\u306f\u305f\u3089\u304d\u304c\u5c11\u3057\u305a\u3064\u5931\u308f\u308c\u3066\u3044\u304f\u75c5\u6c17<\/strong>\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>GM2A<\/strong>\uff085q33.1\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\">GM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9\u306b\u306f\u3001<strong>\u30c6\u30a4\u30fb\u30b5\u30c3\u30af\u30b9\u75c5\uff08HEXA \u907a\u4f1d\u5b50\uff09\u3001\u30b5\u30f3\u30c9\u30db\u30d5\u75c5\uff08HEXB \u907a\u4f1d\u5b50\uff09\u3001\u305d\u3057\u3066\u3053\u306eAB\u5909\u7570\u578b\uff08GM2A \u907a\u4f1d\u5b50\uff09\u306e3\u3064<\/strong>\u304c\u3042\u308a\u307e\u3059\u3002\u75c7\u72b6\u306f\u3088\u304f\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c\u305d\u308c\u305e\u308c\u7570\u306a\u308a\u307e\u3059\u3002<strong>AB\u5909\u7570\u578b\u306f3\u3064\u306e\u306a\u304b\u3067\u3082\u3063\u3068\u3082\u307e\u308c\u3067\u3001\u4e16\u754c\u3067\u3082\u5831\u544a\u306f\u6570\u5341\u4f8b\u307b\u3069\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u578b\u306e\u5927\u304d\u306a\u7279\u5fb4\u306f\u3001<strong>\u5206\u89e3\u306b\u5fc5\u8981\u306a\u9175\u7d20\u305d\u306e\u3082\u306e\u306f\u6b63\u5e38\u306b\u4fdd\u305f\u308c\u3066\u304a\u308a\u3001\u9175\u7d20\u3092\u300c\u624b\u52a9\u3051\u3059\u308b\u300d\u305f\u3093\u3071\u304f\u8cea\u304c\u6b20\u3051\u3066\u3044\u308b<\/strong>\u70b9\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001<strong>\u4e00\u822c\u7684\u306a\u9175\u7d20\u306e\u691c\u67fb\u3067\u306f\u7570\u5e38\u304c\u898b\u3064\u304b\u3089\u305a\u3001\u8a3a\u65ad\u304c\u9045\u308c\u3084\u3059\u3044<\/strong>\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>GM2A<\/strong> \u907a\u4f1d\u5b50\u306f\u3001<strong>\u300cGM2\u6d3b\u6027\u5316\u305f\u3093\u3071\u304f\u8cea\u300d<\/strong>\u3068\u3044\u3046\u5c0f\u3055\u306a\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">GM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u306f\u795e\u7d4c\u7d30\u80de\u306e\u819c\u306b\u3042\u308b\u8102\u8cea\u3067\u3001\u53e4\u304f\u306a\u308b\u3068\u7d30\u80de\u306e\u306a\u304b\u306e\u300c\u30ea\u30bd\u30bd\u30fc\u30e0\u300d\u3068\u3044\u3046\u5206\u89e3\u5de5\u5834\u3067\u3001<strong>\u30d8\u30ad\u30bd\u30b5\u30df\u30cb\u30c0\u30fc\u30bcA\u3068\u3044\u3046\u9175\u7d20\u306b\u3088\u3063\u3066\u5206\u89e3\u3055\u308c\u307e\u3059<\/strong>\u3002\u3068\u3053\u308d\u304c\u3053\u306e\u8102\u8cea\u306f\u819c\u306b\u57cb\u3082\u308c\u3066\u3044\u3066\u3001\u9175\u7d20\u3060\u3051\u3067\u306f\u624b\u304c\u5c4a\u304d\u307e\u305b\u3093\u3002<strong>GM2\u6d3b\u6027\u5316\u305f\u3093\u3071\u304f\u8cea\u304c\u8102\u8cea\u3092\u819c\u304b\u3089\u5f15\u304d\u51fa\u3057\u3001\u9175\u7d20\u306b\u624b\u6e21\u3059\u3053\u3068\u3067\u3001\u306f\u3058\u3081\u3066\u5206\u89e3\u304c\u9032\u307f\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">GM2A \u907a\u4f1d\u5b50\u304c\u4e21\u65b9\u3068\u3082\u306f\u305f\u3089\u304b\u306a\u3044\u3068\u3001<strong>\u9175\u7d20\u306f\u6b63\u5e38\u306b\u3042\u3063\u3066\u3082 GM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u3092\u5206\u89e3\u3067\u304d\u305a\u3001\u795e\u7d4c\u7d30\u80de\u306e\u306a\u304b\u306b\u305f\u307e\u308a\u7d9a\u3051\u307e\u3059<\/strong>\u3002\u305d\u306e\u7d50\u679c\u3001\u795e\u7d4c\u7d30\u80de\u304c\u50b7\u3064\u304d\u3001\u8133\u306e\u306f\u305f\u3089\u304d\u304c\u5f90\u3005\u306b\u5931\u308f\u308c\u3066\u3044\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<p class=\"wp-block-paragraph\">\u591a\u304f\u306f<strong>\u751f\u307e\u308c\u305f\u3068\u304d\u306b\u306f\u76ee\u7acb\u3063\u305f\u7570\u5e38\u304c\u306a\u304f\u3001\u751f\u5f8c3\u301c6\u304b\u6708\u3054\u308d\u304b\u3089\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059<\/strong>\u3002\u7d4c\u904e\u306f\u4e73\u5150\u578b\u306e\u30c6\u30a4\u30fb\u30b5\u30c3\u30af\u30b9\u75c5\u3068\u3088\u304f\u4f3c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u97f3\u3078\u306e\u904e\u654f\u306a\u9a5a\u304d\u53cd\u5fdc<\/strong>\uff1a\u5c0f\u3055\u306a\u7269\u97f3\u3067\u3082\u3073\u304f\u3063\u3068\u624b\u8db3\u3092\u7a81\u3063\u5f35\u3089\u305b\u307e\u3059\u3002\u65e9\u3044\u6642\u671f\u306b\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u306e\u591a\u3044\u30b5\u30a4\u30f3\u3067\u3059<\/li>\n\n\n\n<li><strong>\u7b4b\u8089\u306e\u529b\u306e\u4f4e\u4e0b<\/strong>\uff1a\u9996\u306e\u3059\u308f\u308a\u3084\u304a\u3059\u308f\u308a\u304c\u9045\u308c\u3001\u4f53\u304c\u3084\u308f\u3089\u304b\u304f\u611f\u3058\u3089\u308c\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u505c\u6b62\u3068\u5f8c\u9000<\/strong>\uff1a<strong>\u4e00\u5ea6\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\uff08\u7b11\u3046\u3001\u5bdd\u8fd4\u308a\u306a\u3069\uff09\u304c\u3001\u3057\u3060\u3044\u306b\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u76ee\u306e\u75c7\u72b6<\/strong>\uff1a\u76ee\u3067\u8ffd\u308f\u306a\u304f\u306a\u308a\u3001\u8996\u529b\u304c\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u773c\u5e95\u691c\u67fb\u3067<strong>\u7db2\u819c\u306e\u4e2d\u5fc3\u304c\u8d64\u304f\u898b\u3048\u308b\u300c\u30c1\u30a7\u30ea\u30fc\u30ec\u30c3\u30c9\u30b9\u30dd\u30c3\u30c8\u300d<\/strong>\u304c\u898b\u3089\u308c\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3051\u3044\u308c\u3093\u767a\u4f5c<\/strong>\uff1a1\u6b73\u524d\u5f8c\u304b\u3089\u73fe\u308c\u3001\u85ac\u304c\u52b9\u304d\u306b\u304f\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u982d\u56f2\u306e\u62e1\u5927\uff08\u8102\u8cea\u304c\u305f\u307e\u308b\u3053\u3068\u306b\u3088\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li>\u98f2\u307f\u8fbc\u3080\u529b\u306e\u4f4e\u4e0b\uff1a\u3080\u305b\u3084\u3059\u304f\u306a\u308a\u3001\u8aa4\u56a5\u6027\u80ba\u708e\u3092\u8d77\u3053\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u591a\u304f\u306f\u5e7c\u5150\u671f\uff082\u301c4\u6b73\u3054\u308d\u307e\u3067\uff09\u306b\u547c\u5438\u5668\u611f\u67d3\u75c7\u306a\u3069\u3067\u4ea1\u304f\u306a\u308a\u307e\u3059<\/strong>\u3002\u305f\u3060\u3057\u3001\u75c7\u72b6\u304c\u9045\u308c\u3066\u51fa\u308b\u307e\u308c\u306a\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\">\u4e73\u5150\u671f\u306e\u767a\u9054\u306e\u5f8c\u9000\u3001\u97f3\u3078\u306e\u904e\u654f\u306a\u53cd\u5fdc\u3001<strong>\u773c\u5e95\u306e\u30c1\u30a7\u30ea\u30fc\u30ec\u30c3\u30c9\u30b9\u30dd\u30c3\u30c8<\/strong>\u304b\u3089 GM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9\u304c\u7591\u308f\u308c\u307e\u3059\u3002\u982d\u90e8MRI\u3067\u306f\u3001\u8133\u306e\u6df1\u3044\u90e8\u5206\uff08\u8996\u5e8a\u3084\u57fa\u5e95\u6838\uff09\u3084\u767d\u8cea\u306b\u5909\u5316\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u30c6\u30a4\u30fb\u30b5\u30c3\u30af\u30b9\u75c5\u3084\u30b5\u30f3\u30c9\u30db\u30d5\u75c5\u3067\u306f\u3001\u8840\u6db2\u3067\u30d8\u30ad\u30bd\u30b5\u30df\u30cb\u30c0\u30fc\u30bc\u306e\u9175\u7d20\u6d3b\u6027\u3092\u6e2c\u308b\u3068\u4f4e\u4e0b\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>\u3068\u3053\u308d\u304cAB\u5909\u7570\u578b\u3067\u306f\u3001\u901a\u5e38\u306e\u9175\u7d20\u691c\u67fb\u3067\u306f\u30d8\u30ad\u30bd\u30b5\u30df\u30cb\u30c0\u30fc\u30bcA\u306e\u6d3b\u6027\u304c\u300c\u6b63\u5e38\u300d\u3068\u51fa\u307e\u3059<\/strong>\u3002\u75c7\u72b6\u304b\u3089GM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9\u304c\u5f37\u304f\u7591\u308f\u308c\u308b\u306e\u306b\u9175\u7d20\u6d3b\u6027\u304c\u6b63\u5e38\u306a\u5834\u5408\u306f\u3001\u3053\u306e\u578b\u3092\u8003\u3048\u308b\u5fc5\u8981\u304c\u3042\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\u3001GM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9 AB\u5909\u7570\u578b\u3067\u306f <strong>GM2A<\/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>\u9175\u7d20\u691c\u67fb\u3060\u3051\u3067\u306f\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u305f\u3081\u3001\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u3053\u306e\u578b\u306e\u8a3a\u65ad\u3067\u306f\u3068\u304f\u306b\u91cd\u8981\u3067\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\u3057\u305f\u308a\u9032\u884c\u3092\u6b62\u3081\u305f\u308a\u3059\u308b\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u306a\u3069\u306e\u7814\u7a76\u306f\u52d5\u7269\u5b9f\u9a13\u306e\u6bb5\u968e\u3067\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5b9f\u7528\u5316\u306b\u306f\u81f3\u3063\u3066\u3044\u307e\u305b\u3093\u3002\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001<strong>\u304a\u5b50\u3055\u307e\u306e\u82e6\u75db\u3092\u3084\u308f\u3089\u3052\u3001\u3054\u5bb6\u65cf\u3068\u904e\u3054\u3059\u751f\u6d3b\u3092\u652f\u3048\u308b\u3053\u3068<\/strong>\u3067\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3051\u3044\u308c\u3093\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u7528\u3044\u3066\u3001\u767a\u4f5c\u3092\u3067\u304d\u308b\u3060\u3051\u6291\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6804\u990a\u3068\u98f2\u307f\u8fbc\u307f\u306e\u652f\u63f4<\/strong>\uff1a\u98f2\u307f\u8fbc\u307f\u304c\u96e3\u3057\u304f\u306a\u3063\u305f\u3089\u3001\u7d4c\u7ba1\u6804\u990a\u3084\u80c3\u308d\u3046\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u547c\u5438\u306e\u7ba1\u7406<\/strong>\uff1a\u305f\u3093\u306e\u5438\u5f15\u3001\u59ff\u52e2\u306e\u5de5\u592b\u3001\u80ba\u708e\u306e\u4e88\u9632\u3068\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u5728\u5b85\u533b\u7642<\/strong>\uff1a\u95a2\u7bc0\u304c\u56fa\u304f\u306a\u308b\u306e\u3092\u9632\u304e\u3001\u3054\u81ea\u5b85\u3067\u904e\u3054\u305b\u308b\u3088\u3046\u652f\u63f4\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u7de9\u548c\u30b1\u30a2<\/strong>\uff1a\u304a\u5b50\u3055\u307e\u306e\u82e6\u75db\u3092\u6700\u5c0f\u9650\u306b\u3057\u3001\u3054\u5bb6\u65cf\u304c\u904e\u3054\u3059\u6642\u9593\u3092\u5927\u5207\u306b\u3059\u308b\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4\u3068\u3054\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u30b0\u30ea\u30fc\u30d5\u30b1\u30a2\u3092\u542b\u3081\u3001\u7d99\u7d9a\u7684\u306a\u652f\u3048\u304c\u5fc5\u8981\u3067\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>GM2A<\/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>GM2A<\/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>GM2A<\/strong> \u306f<strong>GM2\u6d3b\u6027\u5316\u305f\u3093\u3071\u304f\u8cea<\/strong>\u3092\u30b3\u30fc\u30c9\u3059\u308b\u3002\u672c\u305f\u3093\u3071\u304f\u8cea\u306f\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u3067\u819c\u5185\u306eGM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u306b\u7d50\u5408\u3057\u3066\u3053\u308c\u3092\u5f15\u304d\u51fa\u3057\u3001<strong>\u30d8\u30ad\u30bd\u30b5\u30df\u30cb\u30c0\u30fc\u30bcA\uff08\u03b1\u03b2\u30d8\u30c6\u30ed\u4e8c\u91cf\u4f53\uff09\u306e\u03b1\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306b\u63d0\u793a\u3059\u308b\u88dc\u56e0\u5b50<\/strong>\u3068\u3057\u3066\u306f\u305f\u3089\u304f\u3002GM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u306eN-\u30a2\u30bb\u30c1\u30eb\u30ac\u30e9\u30af\u30c8\u30b5\u30df\u30f3\u6b8b\u57fa\u306e\u6c34\u89e3\u306b\u306f\u3001\u9175\u7d20\u3068\u6d3b\u6027\u5316\u305f\u3093\u3071\u304f\u8cea\u306e\u4e21\u8005\u304c\u5fc5\u9808\u3067\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">GM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9\u306f\u3001\u6b20\u640d\u3059\u308b\u69cb\u6210\u8981\u7d20\u306b\u3088\u308a<strong>\u2460B\u578b\uff08\u30c6\u30a4\u30fb\u30b5\u30c3\u30af\u30b9\u75c5\uff1aHEXA\u3001\u03b1\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u6b20\u640d\uff09\u3001\u2461O\u578b\uff08\u30b5\u30f3\u30c9\u30db\u30d5\u75c5\uff1aHEXB\u3001\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u6b20\u640d\u3067\u30d8\u30ad\u30bd\u30b5\u30df\u30cb\u30c0\u30fc\u30bcA\u30fbB\u3068\u3082\u306b\u4f4e\u4e0b\uff09\u3001\u2462AB\u578b\uff08GM2A\u3001\u6d3b\u6027\u5316\u305f\u3093\u3071\u304f\u8cea\u6b20\u640d\uff09<\/strong>\u306b\u5206\u985e\u3055\u308c\u308b\u3002AB\u5909\u7570\u578b\u306e\u540d\u79f0\u306f\u3001<strong>\u30d8\u30ad\u30bd\u30b5\u30df\u30cb\u30c0\u30fc\u30bcA\u3068B\u306e\u6d3b\u6027\u304c\u3044\u305a\u308c\u3082\u4fdd\u305f\u308c\u308b<\/strong>\u3053\u3068\u306b\u7531\u6765\u3059\u308b\u3002<strong>\u4eba\u5de5\u57fa\u8cea\uff084-MUG\u30014-MUGS\uff09\u3092\u7528\u3044\u305f\u901a\u5e38\u306e\u9175\u7d20\u6e2c\u5b9a\u306f\u6d3b\u6027\u5316\u305f\u3093\u3071\u304f\u8cea\u306b\u4f9d\u5b58\u3057\u306a\u3044\u305f\u3081\u6b63\u5e38\u5024\u3092\u793a\u3057\u3001\u751f\u5316\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u898b\u9003\u3055\u308c\u308b<\/strong>\u3002\u8a3a\u65ad\u306b\u306f GM2A \u907a\u4f1d\u5b50\u89e3\u6790\u3001\u307e\u305f\u306f\u5929\u7136\u57fa\u8cea\u3092\u7528\u3044\u305f\u8ca0\u8377\u8a66\u9a13\u3084\u6d3b\u6027\u5316\u305f\u3093\u3071\u304f\u8cea\u306e\u5b9a\u91cf\u304c\u5fc5\u8981\u3068\u306a\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u81e8\u5e8a\u50cf\u306f\u4e73\u5150\u578b\u30c6\u30a4\u30fb\u30b5\u30c3\u30af\u30b9\u75c5\u3068\u533a\u5225\u3067\u304d\u305a\u3001\u4e73\u5150\u671f\u767a\u75c7\u30fb\u5e7c\u5150\u671f\u6b7b\u4ea1\u304c\u5178\u578b\u3067\u3042\u308b\u304c\u3001\u3088\u308a\u9045\u3044\u767a\u75c7\u306e\u4f8b\u3082\u5c11\u6570\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u5831\u544a\u4f8b\u306f\u5c11\u306a\u304f\u3001<strong>\u7279\u5b9a\u306e\u6c11\u65cf\u96c6\u56e3\u3067\u306e\u9ad8\u983b\u5ea6\u306f\u77e5\u3089\u308c\u3066\u3044\u306a\u3044<\/strong>\u3002\u8840\u65cf\u5a5a\u306e\u5bb6\u7cfb\u304b\u3089\u306e\u5831\u544a\u304c\u6bd4\u8f03\u7684\u591a\u3044\u3002\u9451\u5225\u306b\u306f\u3001\u30c6\u30a4\u30fb\u30b5\u30c3\u30af\u30b9\u75c5\u3001\u30b5\u30f3\u30c9\u30db\u30d5\u75c5\u306e\u307b\u304b\u3001\u30c1\u30a7\u30ea\u30fc\u30ec\u30c3\u30c9\u30b9\u30dd\u30c3\u30c8\u3092\u4f34\u3046GM1\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9\uff08<em>GLB1<\/em>\uff09\u3001\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5A\u578b\uff08<em>SMPD1<\/em>\uff09\u3001\u30b7\u30a2\u30ea\u30c9\u30fc\u30b7\u30b9\uff08<em>NEU1<\/em>\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u9175\u7d20\u6d3b\u6027\u304c\u6b63\u5e38\u306aGM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9\u7591\u3044\u4f8b\u3067\u306f\u3001\u672c\u75c7\u3092\u7a4d\u6975\u7684\u306b\u8003\u616e\u3059\u3079\u304d\u3067\u3042\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>2\u5206\u306e1\u306e\u78ba\u7387\u3067\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u30014\u5206\u306e1\u306e\u78ba\u7387\u3067\u5909\u5316\u3092\u53d7\u3051\u7d99\u304e\u307e\u305b\u3093\u3002<strong>\u7537\u306e\u5b50\u3067\u3082\u5973\u306e\u5b50\u3067\u3082\u540c\u3058\u78ba\u7387\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u30c6\u30a4\u30fb\u30b5\u30c3\u30af\u30b9\u75c5\u3084\u30b5\u30f3\u30c9\u30db\u30d5\u75c5\u3068\u306f\u4f55\u304c\u9055\u3044\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u75c7\u72b6\u3084\u7d4c\u904e\u306f\u3088\u304f\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001<strong>\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c\u9055\u3044\u307e\u3059<\/strong>\u3002\u30c6\u30a4\u30fb\u30b5\u30c3\u30af\u30b9\u75c5\u3068\u30b5\u30f3\u30c9\u30db\u30d5\u75c5\u306f\u5206\u89e3\u9175\u7d20\u305d\u306e\u3082\u306e\u304c\u8db3\u308a\u306a\u3044\u75c5\u6c17\u3067\u3059\u304c\u3001<strong>AB\u5909\u7570\u578b\u306f\u9175\u7d20\u3092\u624b\u52a9\u3051\u3059\u308b\u305f\u3093\u3071\u304f\u8cea\u304c\u8db3\u308a\u306a\u3044\u75c5\u6c17<\/strong>\u3067\u3059\u3002\u305d\u306e\u305f\u3081<strong>\u4e00\u822c\u7684\u306a\u9175\u7d20\u306e\u691c\u67fb\u3067\u306f\u7570\u5e38\u304c\u51fa\u305a\u3001\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u3066\u306f\u3058\u3081\u3066\u8a3a\u65ad\u304c\u3064\u304f\u3053\u3068\u304c\u591a\u3044<\/strong>\u70b9\u304c\u5927\u304d\u306a\u9055\u3044\u3067\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\u751f\u307e\u308c\u305f\u3042\u3068\u306b\u75c7\u72b6\u304c\u51fa\u308b\u305f\u3081\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u6c17\u3065\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067 GM2A \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u78ba\u5b9a\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u305d\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u307e\u305f\u3001\u3053\u306e\u578b\u306f\u9175\u7d20\u691c\u67fb\u3067\u5224\u65ad\u3067\u304d\u306a\u3044\u305f\u3081\u3001<strong>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3092\u78ba\u5b9a\u3057\u3066\u304a\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059<\/strong>\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. \u751f\u307e\u308c\u305f\u3042\u3068\u3001\u3069\u306e\u304f\u3089\u3044\u751f\u304d\u3089\u308c\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u5178\u578b\u7684\u306a\u7d4c\u904e\u3067\u306f\u3001\u4e73\u5150\u671f\u306b\u75c7\u72b6\u304c\u51fa\u3066\u5f90\u3005\u306b\u9032\u307f\u3001\u591a\u304f\u306f\u5e7c\u5150\u671f\u306b\u4ea1\u304f\u306a\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u5831\u544a\u4f8b\u304c\u5c11\u306a\u3044\u305f\u3081\u7d4c\u904e\u306b\u306f\u5e45\u304c\u3042\u308a\u3001\u75c7\u72b6\u304c\u9045\u308c\u3066\u51fa\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002\u3064\u3089\u3044\u304a\u8a71\u3067\u3059\u304c\u3001\u898b\u901a\u3057\u3092\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u307e\u3068\u904e\u3054\u3059\u6642\u9593\u3084\u30b1\u30a2\u306e\u6e96\u5099\u304c\u3067\u304d\u307e\u3059\u3002\u533b\u7642\u30c1\u30fc\u30e0\u3068\u3088\u304f\u8a71\u3057\u5408\u3063\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>Conzelmann E, Sandhoff K. AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2. <em>Proc Natl Acad Sci U S A<\/em>. 1978;75(8):3979-3983.<\/li>\n\n\n\n<li>Schr\u00f6der M, Schnabel D, Suzuki K, Sandhoff K. A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. <em>FEBS Lett<\/em>. 1991;290(1-2):1-3.<\/li>\n\n\n\n<li>Mahuran DJ. Biochemical consequences of mutations causing the GM2 gangliosidoses. <em>Biochim Biophys Acta<\/em>. 1999;1455(2-3):105-138.<\/li>\n\n\n\n<li>Sandhoff K, Harzer K. Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis. <em>J Neurosci<\/em>. 2013;33(25):10195-10208.<\/li>\n\n\n\n<li>OMIM #272750 GM2-gangliosidosis, AB variant. 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-147594","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\/147594","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\/147594\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147594"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}