{"id":33569,"date":"2022-07-11T16:46:40","date_gmt":"2022-07-11T07:46:40","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33569"},"modified":"2026-05-08T11:55:41","modified_gmt":"2026-05-08T02:55:41","slug":"arthrogryposis-mental-retardation-seizures","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/arthrogryposis-mental-retardation-seizures\/","title":{"rendered":"SLC35A3\u5909\u7570\u306b\u3088\u308b\u95a2\u7bc0\u62d8\u7e2e\u3001\u7cbe\u795e\u9045\u6ede\u3001\u304a\u3088\u3073\u767a\u4f5c"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u95a2\u7bc0\u62d8\u7e2e\u3001\u7cbe\u795e\u9045\u6ede\u3001\u3066\u3093\u304b\u3093\uff08Arthrogryposis Mental Retardation Seizures, AMRS\uff09\u306f\u3001<strong>SLC35A3<\/strong>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002\u672c\u75be\u60a3\u306f\u3001\u5148\u5929\u6027\u306e\u95a2\u7bc0\u62d8\u7e2e\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u3066\u3093\u304b\u3093\u3092\u7279\u5fb4\u3068\u3057\u3001\u7cd6\u9396\u4fee\u98fe\u7570\u5e38\u306b\u3088\u308b\u9aa8\u683c\u5f62\u6210\u3084\u795e\u7d4c\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u73fe\u5728\u306e\u6cbb\u7642\u6cd5\u306f\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u304c\u3001\u907a\u4f1d\u5b50\u89e3\u6790\u3092\u6d3b\u7528\u3057\u305f\u6b63\u78ba\u306a\u8a3a\u65ad\u3068\u9069\u5207\u306a\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>SLC35A3\uff5cArthrogryposis Mental Retardation Seizures<\/p>\n\n\n\n<p><sup>Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome; Autism Spectrum Disorder &#8211; Epilepsy &#8211; Arthrogryposis Syndrome; SLC35A3-CDG<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u95a2\u7bc0\u62d8\u7e2e\u3001\u7cbe\u795e\u9045\u6ede\u3001\u3066\u3093\u304b\u3093\uff08Arthrogryposis Mental Retardation Seizures, AMRS\uff09\u306f\u3001<strong>SLC35A3<\/strong>\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308b\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u591a\u767a\u6027\u5148\u5929\u6027\u95a2\u7bc0\u62d8\u7e2e\uff08\u95a2\u7bc0\u62d8\u7e2e\u75c7\uff09\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u3066\u3093\u304b\u3093\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002<strong>SLC35A3<\/strong>\u306f\u3001\u30b4\u30eb\u30b8\u88c5\u7f6e\u5185\u306b<strong>\u30a6\u30ea\u30b8\u30f3\u4e8c\u30ea\u30f3\u9178-N-\u30a2\u30bb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3\uff08UDP-GlcNAc\uff09<\/strong><strong>\u3092\u8f38\u9001\u3059\u308b\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u7cd6\u8f38\u9001\u4f53\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001<\/strong><strong>N-\u30b0\u30ea\u30ab\u30f3\u5206\u5c90<\/strong><strong>\u3084<\/strong><strong>\u30b0\u30ea\u30b3\u30b5\u30df\u30ce\u30b0\u30ea\u30ab\u30f3\uff08GAG\uff09\u751f\u5408\u6210<\/strong>\u306a\u3069\u306e\u7cd6\u9396\u4fee\u98fe\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u3002<\/p>\n\n\n\n<p><strong>SLC35A3<\/strong>\u306e\u6a5f\u80fd\u7570\u5e38\u306b\u3088\u308a\u3001<strong>\u7cd6\u9396\u4fee\u98fe\u7d4c\u8def<\/strong>\u306b\u6b20\u9665\u304c\u751f\u3058\u3001\u8edf\u9aa8\u767a\u751f\u3001\u7d30\u80de\u5916\u30de\u30c8\u30ea\u30c3\u30af\u30b9\u5f62\u6210\u3001\u795e\u7d4c\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u9aa8\u683c\u7570\u5e38\u3001\u795e\u7d4c\u75c7\u72b6\u3001\u8a8d\u77e5\u6a5f\u80fd\u969c\u5bb3\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u306a\u304a\u3001\u672c\u75be\u60a3\u306f<strong>\u8907\u5408\u690e\u9aa8\u7570\u5e38\u75c7\u5019\u7fa4\uff08Complex Vertebral Malformation, CVM\uff09<\/strong><strong>\u3068\u547c\u3070\u308c\u308b\u30a6\u30b7\u306e\u907a\u4f1d\u75be\u60a3\u3068\u8868\u73fe\u578b\u304c\u985e\u4f3c\u3057\u3066\u304a\u308a\u3001\u3044\u305a\u308c\u3082<\/strong><strong>SLC35A3<\/strong>\u907a\u4f1d\u5b50\u5909\u7570\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>AMRS\u306f<strong>\u6975\u3081\u3066\u7a00\u306a<\/strong>\u907a\u4f1d\u75be\u60a3\u3067\u3042\u308a\u3001\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u4e0d\u660e\u3067\u3042\u308b\u304c\u3001\u3053\u308c\u307e\u3067\u306e\u5831\u544a\u4f8b\u306f<strong>20\u4f8b\u672a\u6e80<\/strong>\u306b\u3068\u3069\u307e\u308b\u3002\u4e3b\u306b<strong>\u8840\u7e01\u5a5a\u306e\u3042\u308b\u5bb6\u7cfb<\/strong>\u3067\u306e\u767a\u75c7\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u308b\u3002\u672c\u75be\u60a3\u306f<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f<\/strong>\u3092\u3068\u308a\u3001\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u75c5\u7684<strong>SLC35A3<\/strong>\u30d0\u30ea\u30a2\u30f3\u30c8\u3092\u53d7\u3051\u7d99\u3050\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u3002<\/p>\n\n\n\n<p><strong>SLC35A3\u5909\u7570<\/strong>\u306f\u3001<strong>3\u3064\u306e\u7121\u95a2\u4fc2\u306a\u5bb6\u7cfb<\/strong>\u306b\u304a\u3044\u3066AMRS\u60a3\u8005\u304b\u3089\u521d\u3081\u3066\u540c\u5b9a\u3055\u308c\u305f\u3002\u305d\u306e\u5f8c\u3001\u8ffd\u52a0\u75c7\u4f8b\u304c\u5831\u544a\u3055\u308c\u3001<strong>SLC35A3\u306e\u6a5f\u80fd\u7570\u5e38\u3068\u672c\u75be\u60a3\u306e\u95a2\u9023<\/strong>\u304c\u88cf\u4ed8\u3051\u3089\u308c\u305f\u3002\u307e\u305f\u3001\u985e\u4f3c\u75be\u60a3\u3067\u3042\u308bCVM\u306f\u3001<strong>\u30db\u30eb\u30b9\u30bf\u30a4\u30f3\u7a2e\u30a6\u30b7<\/strong>\u306b\u5e83\u304f\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u304a\u308a\u3001<strong>SLC35A3<\/strong>\u306e\u810a\u690e\u52d5\u7269\u306b\u304a\u3051\u308b\u9aa8\u683c\u5f62\u6210\u306e\u5f79\u5272\u304c\u4fdd\u5b58\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u3092\u793a\u5506\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>AMRS\u306f\u3001<strong>SLC35A3<\/strong>\u907a\u4f1d\u5b50\u306e<strong>\u30db\u30e2\u63a5\u5408\u307e\u305f\u306f\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u306e\u75c5\u7684\u5909\u7570<\/strong>\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002<strong>SLC35A3<\/strong>\u306f\u3001\u7d30\u80de\u8cea\u5185\u306e<strong>UDP-GlcNAc<\/strong>\u3092<strong>\u30b4\u30eb\u30b8\u88c5\u7f6e<\/strong>\u3078\u8f38\u9001\u3059\u308b\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u7cd6\u8f38\u9001\u4f53\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u7cd6\u9396\u4fee\u98fe\u306b\u4e0d\u53ef\u6b20\u3067\u3042\u308b\u3002\u3053\u306e\u904e\u7a0b\u306f\u3001<strong>N-\u30b0\u30ea\u30ab\u30f3\u5206\u5c90<\/strong>\u3084<strong>\u30b0\u30ea\u30b3\u30b5\u30df\u30ce\u30b0\u30ea\u30ab\u30f3\uff08GAG\uff09\u751f\u5408\u6210<\/strong>\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3001\u6b63\u5e38\u306a\u8edf\u9aa8\u767a\u751f\u3001Notch\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u3001\u304a\u3088\u3073\u7d30\u80de\u5916\u30de\u30c8\u30ea\u30c3\u30af\u30b9\uff08ECM\uff09\u5f62\u6210\u306b\u5fc5\u8981\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p><strong>SLC35A3<\/strong>\u306e\u6a5f\u80fd\u7570\u5e38\u306b\u3088\u308a\u3001\u4ee5\u4e0b\u306e\u7570\u5e38\u304c\u751f\u3058\u308b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>N-\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u306e\u6b20\u9665<\/strong>\uff1a<strong>\u9ad8\u5ea6\u306b\u5206\u5c90\u3057\u305fN-\u30b0\u30ea\u30ab\u30f3<\/strong>\u306e\u6e1b\u5c11\u306b\u3088\u308a\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6b63\u3057\u3044\u6298\u308a\u305f\u305f\u307f\u3068\u6a5f\u80fd\u304c\u59a8\u3052\u3089\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong>GAG\u751f\u5408\u6210\u306e\u969c\u5bb3<\/strong>\uff1a<strong>\u30b3\u30f3\u30c9\u30ed\u30a4\u30c1\u30f3\u786b\u9178\uff08CS\uff09<\/strong>\u3001<strong>\u30d8\u30d1\u30e9\u30f3\u786b\u9178\uff08HS\uff09<\/strong>\u3001**\u30b1\u30e9\u30bf\u30f3\u786b\u9178\uff08KS\uff09**\u306e\u5408\u6210\u4f4e\u4e0b\u306b\u3088\u308a\u3001\u8edf\u9aa8\u5f62\u6210\u304a\u3088\u3073\u9aa8\u683c\u306e\u5b8c\u5168\u6027\u304c\u640d\u306a\u308f\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong>Notch\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u7570\u5e38<\/strong>\uff1aNotch\u53d7\u5bb9\u4f53\u306e\u7cd6\u9396\u4fee\u98fe\u306e\u7570\u5e38\u306b\u3088\u308a\u3001<strong>\u4f53\u7bc0\u5f62\u6210<\/strong>\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u690e\u9aa8\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>Slc35a3\u6b20\u640d\u30de\u30a6\u30b9\uff08Slc35a3-\/-\u30de\u30a6\u30b9\uff09<\/strong><strong>\u3067\u306f\u3001<\/strong><strong>\u5468\u7523\u671f\u81f4\u6b7b\u3001\u9aa8\u683c\u7570\u5e38\u3001\u8edf\u9aa8\u7570\u5f62\u6210<\/strong><strong>\u304c\u78ba\u8a8d\u3055\u308c\u3066\u304a\u308a\u3001<\/strong><strong>SLC35A3<\/strong><strong>\u304c<\/strong><strong>\u9aa8\u683c\u304a\u3088\u3073\u795e\u7d4c\u767a\u751f<\/strong>\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>AMRS\u306e\u60a3\u8005\u306f\u3001<strong>\u9aa8\u683c\u7570\u5e38\u3068\u795e\u7d4c\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b<\/strong>\u3092\u5448\u3059\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u683c\u7570\u5e38<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u591a\u767a\u6027\u95a2\u7bc0\u62d8\u7e2e\uff08\u95a2\u7bc0\u62d8\u7e2e\u75c7\uff09<\/li>\n\n\n\n<li>\u56db\u80a2\u306e\u77ed\u7e2e<\/li>\n\n\n\n<li>\u690e\u9aa8\u7570\u5e38<\/li>\n\n\n\n<li>\u5927\u95a2\u7bc0\uff08\u80a1\u95a2\u7bc0\u3001\u819d\u3001\u80a9\uff09\u306e\u8131\u81fc<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u75c7\u72b6<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\uff08\u91cd\u75c7\u5ea6\u306f\u60a3\u8005\u306b\u3088\u308a\u7570\u306a\u308b\uff09<\/li>\n\n\n\n<li>\u767a\u9054\u9045\u6ede<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u307e\u305f\u306f\u7b4b\u7dca\u5f35\u4ea2\u9032<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9854\u8c8c\u304a\u3088\u3073\u5168\u8eab\u7570\u5e38<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u9854\u9762\u5947\u5f62<\/li>\n\n\n\n<li>\u5fc3\u5947\u5f62\uff08\u5831\u544a\u4f8b\u3042\u308a\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u8133MRI\u3067\u306f\u3001<strong>\u5927\u8133\u840e\u7e2e\u3001\u767d\u8cea\u7570\u5e38\u3001\u5c0f\u8133\u4f4e\u5f62\u6210<\/strong>\u304c\u8a8d\u3081\u3089\u308c\u3001<strong>SLC35A3<\/strong>\u304c<strong>\u795e\u7d4c\u767a\u751f<\/strong>\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>AMRS\u306e\u8a3a\u65ad\u306f\u3001<strong>\u81e8\u5e8a\u8a55\u4fa1\u3001\u751f\u5316\u5b66\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u89e3\u6790<\/strong>\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u7279\u5fb4\u7684\u306a\u9aa8\u683c\u7570\u5e38\u304a\u3088\u3073\u795e\u7d4c\u75c7\u72b6\u306e\u78ba\u8a8d<\/li>\n\n\n\n<li>\u5bb6\u65cf\u6b74\u306e\u8a55\u4fa1\uff08\u7279\u306b\u8840\u7e01\u5a5a\u306e\u6709\u7121\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u751f\u5316\u5b66\u691c\u67fb<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li><strong>\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u7570\u5e38\u5206\u6790<\/strong>\uff08N-\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u306e\u7570\u5e38\u3092\u691c\u51fa\uff09<\/li>\n\n\n\n<li><strong>GAG\u4e8c\u7cd6\u7d44\u6210\u5206\u6790<\/strong>\uff08CS\u3001HS\u3001KS\u306e\u30ec\u30d9\u30eb\u8a55\u4fa1\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\uff08WES\uff09<\/strong><strong>\u307e\u305f\u306f<\/strong><strong>\u30bf\u30fc\u30b2\u30c3\u30c8\u907a\u4f1d\u5b50\u30b7\u30fc\u30b1\u30f3\u30b9<\/strong>\u306b\u3088\u308b<strong>SLC35A3\u5909\u7570\u306e\u691c\u51fa<\/strong><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u753b\u50cf\u8a3a\u65ad<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li><strong>\u8133MRI<\/strong>\u306b\u3088\u308b\u767d\u8cea\u7570\u5e38\u304a\u3088\u3073\u5c0f\u8133\u840e\u7e2e\u306e\u8a55\u4fa1<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>AMRS\u306e\u8a3a\u65ad\u306f\u3001<strong>\u81e8\u5e8a\u8a55\u4fa1\u3001\u751f\u5316\u5b66\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u89e3\u6790<\/strong>\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u7279\u5fb4\u7684\u306a\u9aa8\u683c\u7570\u5e38\u304a\u3088\u3073\u795e\u7d4c\u75c7\u72b6\u306e\u78ba\u8a8d<\/li>\n\n\n\n<li>\u5bb6\u65cf\u6b74\u306e\u8a55\u4fa1\uff08\u7279\u306b\u8840\u7e01\u5a5a\u306e\u6709\u7121\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u751f\u5316\u5b66\u691c\u67fb<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li><strong>\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u7570\u5e38\u5206\u6790<\/strong>\uff08N-\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u306e\u7570\u5e38\u3092\u691c\u51fa\uff09<\/li>\n\n\n\n<li><strong>GAG\u4e8c\u7cd6\u7d44\u6210\u5206\u6790<\/strong>\uff08CS\u3001HS\u3001KS\u306e\u30ec\u30d9\u30eb\u8a55\u4fa1\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\uff08WES\uff09<\/strong><strong>\u307e\u305f\u306f<\/strong><strong>\u30bf\u30fc\u30b2\u30c3\u30c8\u907a\u4f1d\u5b50\u30b7\u30fc\u30b1\u30f3\u30b9<\/strong>\u306b\u3088\u308b<strong>SLC35A3\u5909\u7570\u306e\u691c\u51fa<\/strong><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u753b\u50cf\u8a3a\u65ad<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li><strong>\u8133MRI<\/strong>\u306b\u3088\u308b\u767d\u8cea\u7570\u5e38\u304a\u3088\u3073\u5c0f\u8133\u840e\u7e2e\u306e\u8a55\u4fa1<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u3001AMRS\u306b\u5bfe\u3059\u308b<strong>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u306a\u3044<\/strong>\u3002\u6cbb\u7642\u306f<strong>\u75c7\u72b6\u7ba1\u7406\u304a\u3088\u3073\u652f\u6301\u7642\u6cd5<\/strong>\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u95a2\u7bc0\u53ef\u52d5\u57df\u306e\u7dad\u6301\u3001\u62d8\u7e2e\u9032\u884c\u306e\u4e88\u9632<\/li>\n\n\n\n<li>\u6574\u5f62\u5916\u79d1\u7684\u4ecb\u5165\uff08\u624b\u8853\u3001\u88c5\u5177\u4f7f\u7528\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u7ba1\u7406<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>**\u6297\u3066\u3093\u304b\u3093\u85ac\uff08AED\uff09**\u306b\u3088\u308b\u767a\u4f5c\u7ba1\u7406\uff08\u60a3\u8005\u306b\u3088\u308a\u52b9\u679c\u304c\u7570\u306a\u308b\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u591a\u8077\u7a2e\u9023\u643a\u30b1\u30a2<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u5947\u5f62\u304c\u3042\u308b\u5834\u5408\u306e\u5b9a\u671f\u7684\u306a\u5fc3\u81d3\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/li>\n\n\n\n<li>\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65b0\u898f\u6cbb\u7642\u306e\u7814\u7a76<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li><strong>UDP-GlcNAc\u88dc\u5145\u7642\u6cd5<\/strong>\u3084<strong>\u907a\u4f1d\u5b50\u6cbb\u7642<\/strong>\u306e\u53ef\u80fd\u6027\u304c\u691c\u8a0e\u3055\u308c\u3066\u3044\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>AMRS\u306e\u4e88\u5f8c\u306f\u3001<strong>\u9aa8\u683c\u304a\u3088\u3073\u795e\u7d4c\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6<\/strong>\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1136\/jmedgenet-2013-101753\">Edvardson, S., Ashikov, A., Jalas, C., Sturiale, L., Shaag, A., Fedick, A., Treff, N. R., Garozzo, D., Gerardy-Schahn, R., &amp; Elpeleg, O. (2013). Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. <em>Journal of Medical Genetics<\/em>, <em>50<\/em>(11), 733\u2013739. https:\/\/doi.org\/10.1136\/jmedgenet-2013-101753<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1371\/journal.pone.0284292\">Saito, S., Mizumoto, S., Yonekura, T., Yamashita, R., Nakano, K., Okubo, T., Yamada, S., Okamura, T., &amp; Furuichi, T. (2023). Mice lacking nucleotide sugar transporter SLC35A3 exhibit lethal chondrodysplasia with vertebral anomalies and impaired glycosaminoglycan biosynthesis. <em>PLOS ONE<\/em>, <em>18<\/em>(4), e0284292. https:\/\/doi.org\/10.1371\/journal.pone.0284292<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fgene.2021.642097\">Dubail, J., &amp; Cormier-Daire, V. (2021). Chondrodysplasias with multiple dislocations caused by defects in glycosaminoglycan synthesis. <em>Frontiers in Genetics<\/em>, <em>12<\/em>, 642097. https:\/\/doi.org\/10.3389\/fgene.2021.642097<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/brain\/awac110\">Guasto, A., Dubail, J., Aguilera-Albesa, S., Paganini, C., Vanhulle, C., Haouari, W., Gorr\u00eda-Redondo, N., Aznal-Sainz, E., Boddaert, N., Planas-Serra, L., Schl\u00fcter, A., V\u00e9lez-Santamar\u00eda, V., Verdura, E., Bruneel, A., Rossi, A., Huber, C., Pujol, A., &amp; Cormier-Daire, V. (2022). Biallelic variants in <em>SLC35B2<\/em> cause a novel chondrodysplasia with hypomyelinating leukodystrophy. <em>Brain<\/em>, <em>145<\/em>(10), 3711\u20133722. https:\/\/doi.org\/10.1093\/brain\/awac110<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/brainsci11010088\">Paprocka, J., Jezela-Stanek, A., Tylki-Szyma\u0144ska, A., &amp; Grunewald, S. (2021). Congenital disorders of glycosylation from a neurological perspective. <em>Brain Sciences<\/em>, <em>11<\/em>(1), 88. https:\/\/doi.org\/10.3390\/brainsci11010088<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>SLC35A3, AMRS, \u95a2\u7bc0\u62d8\u7e2e, \u7cbe\u795e\u9045\u6ede, \u3066\u3093\u304b\u3093, \u7cd6\u9396\u4fee\u98fe\u7570\u5e38, N-\u30b0\u30ea\u30ab\u30f3, \u30b0\u30ea\u30b3\u30b5\u30df\u30ce\u30b0\u30ea\u30ab\u30f3, \u9aa8\u683c\u7570\u5e38, \u907a\u4f1d\u6027\u75be\u60a3, \u907a\u4f1d\u5b50\u691c\u67fb<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":32,"template":"page_gd.php","class_list":["post-33569","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\/33569","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":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33569\/revisions"}],"predecessor-version":[{"id":128065,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33569\/revisions\/128065"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33569"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}