{"id":60125,"date":"2023-08-24T11:51:29","date_gmt":"2023-08-24T02:51:29","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60125"},"modified":"2026-05-08T11:51:19","modified_gmt":"2026-05-08T02:51:19","slug":"cerebral-creatine-deficiency-syndrome","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cerebral-creatine-deficiency-syndrome\/","title":{"rendered":"\u8133\u30af\u30ec\u30a2\u30c1\u30f3\u6b20\u4e4f\u75c7\u5019\u7fa4"},"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>\u30af\u30ec\u30a2\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\u6b20\u640d\u75c7\uff08Creatine Transporter Deficiency, CTD\uff09\u306f\u3001SLC6A8\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3059\u308bX\u9023\u9396\u6027\u306e\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u8a00\u8a9e\u9045\u5ef6\u3001\u884c\u52d5\u7570\u5e38\u3001\u3066\u3093\u304b\u3093\u306a\u3069\u304c\u7279\u5fb4\u3067\u3001\u7279\u306b\u7537\u6027\u306b\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u30af\u30ec\u30a2\u30c1\u30f3\u88dc\u5145\u7642\u6cd5\u304c\u8a66\u307f\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001CTD\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\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>SLC6A8\uff5cCerebral Creatine Deficiency Syndrome 1<\/p>\n\n\n\n<p><sup>Creatine Deficiency Syndrome, X-Linked; Creatine Transporter Defect<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30af\u30ec\u30a2\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\u6b20\u640d\u75c7\uff08Creatine Transporter Deficiency, CTD\uff09\u306f\u3001<strong>SLC6A8<\/strong> \u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308bX\u9023\u9396\u6027\u306e\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u3067\u3042\u308a\u3001\u8133\u5185\u306e\u30af\u30ec\u30a2\u30c1\u30f3\u8f38\u9001\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059<strong>\u30ca\u30c8\u30ea\u30a6\u30e0\u30fb\u5869\u7d20\u5171\u8f38\u9001\u4f9d\u5b58\u6027\u30af\u30ec\u30a2\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc1<\/strong>\u306e\u6a5f\u80fd\u969c\u5bb3\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002\u30af\u30ec\u30a2\u30c1\u30f3\u306f\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u306b\u4e0d\u53ef\u6b20\u306a\u7269\u8cea\u3067\u3042\u308a\u3001ATP\u518d\u751f\u3084\u795e\u7d4c\u4f1d\u9054\u306e\u8abf\u7bc0\u306b\u95a2\u4e0e\u3059\u308b\u3002CTD\u3067\u306f\u3001\u30af\u30ec\u30a2\u30c1\u30f3\u306e\u8133\u5185\u53d6\u308a\u8fbc\u307f\u304c\u969c\u5bb3\u3055\u308c\u308b\u3053\u3068\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08Intellectual Disability, ID\uff09\u3001\u91cd\u5ea6\u306e\u8a00\u8a9e\u767a\u9054\u9045\u5ef6\u3001\u3066\u3093\u304b\u3093\u3001\u884c\u52d5\u7570\u5e38\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09\u69d8\u75c7\u72b6\u3092\u542b\u3080\uff09\u3092\u5448\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u7537\u6027\u306e\u75c7\u4f8b\u304c\u5178\u578b\u7684\u3067\u3042\u308b\u304c\u3001\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5973\u6027\uff08\u30d8\u30c6\u30ed\u63a5\u5408\u4f53\uff09\u3082\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u795e\u7d4c\u5b66\u7684\u7570\u5e38\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308b\u3002CTD\u306fX\u9023\u9396\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u539f\u56e0\u306e\u7d042%\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u3001\u73fe\u5728\u3001\u30af\u30ec\u30a2\u30c1\u30f3\u304a\u3088\u3073\u305d\u306e\u524d\u99c6\u4f53\u3067\u3042\u308b\u30a2\u30eb\u30ae\u30cb\u30f3\u3084\u30b0\u30ea\u30b7\u30f3\u306e\u88dc\u5145\u7642\u6cd5\u304c\u8a66\u307f\u3089\u308c\u3066\u3044\u308b\u304c\u3001\u6cbb\u7642\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u660e\u78ba\u306a\u30a8\u30d3\u30c7\u30f3\u30b9\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>CTD\u306f<strong>X\u9023\u9396\u6027<\/strong>\u3067\u3042\u308a\u3001\u767a\u75c7\u983b\u5ea6\u306f\u7537\u6027\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u60a3\u8005\u306e0.4\uff5e1.4%\u3001X\u9023\u9396\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u60a3\u8005\u306e\u7d042%<strong>\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002\u4e00\u822c\u96c6\u56e3\u306b\u304a\u3051\u308b<\/strong>\u5973\u6027\u4fdd\u56e0\u8005\u306e\u983b\u5ea6\u306f\u7d040.024%\u3068\u3055\u308c\u308b\u3002\u8a3a\u65ad\u304c\u96e3\u3057\u304f\u3001\u7279\u306b\u8efd\u75c7\u4f8b\u3084\u5973\u6027\u60a3\u8005\u3067\u306f\u672a\u8a3a\u65ad\u306e\u307e\u307e\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/p>\n\n\n\n<p>\u65e2\u77e5\u306eCTD\u306e\u75c7\u4f8b\u6570\u306f160\u4f8b\u4ee5\u4e0a\u3068\u3055\u308c\u3066\u304a\u308a\u3001\u73fe\u5728\u307e\u3067\u306b<strong>SLC6A8\u907a\u4f1d\u5b50\u306e100\u4ee5\u4e0a\u306e\u75c5\u7684\u5909\u7570<\/strong>\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u3053\u308c\u3089\u306e\u5909\u7570\u306f\u3001\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff0838%\uff09\u3001\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\uff0823%\uff09\u30013\u5869\u57fa\u6b20\u5931\uff0819%\uff09\u304c\u4e3b\u306a\u3082\u306e\u3067\u3042\u308a\u3001\u5927\u304d\u306a\u907a\u4f1d\u5b50\u6b20\u5931\u3084\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u306f\u91cd\u7be4\u306a\u8868\u73fe\u578b\u3068\u95a2\u9023\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>SLC6A8\u907a\u4f1d\u5b50\uff08Xq28\uff09\u306f\u3001<strong>\u30ca\u30c8\u30ea\u30a6\u30e0\u30fb\u5869\u7d20\u5171\u8f38\u9001\u4f9d\u5b58\u6027\u30af\u30ec\u30a2\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\uff08CRTR, CT1\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3001\u4e3b\u306b\u8133\u3001\u7b4b\u8089\u3001\u814e\u81d3\u3001\u5fc3\u81d3<\/strong>\u3067\u767a\u73fe\u3057\u3066\u3044\u308b\u3002\u3053\u306e\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\u306f\u3001\u8840\u6db2\u8133\u95a2\u9580\u3092\u4ecb\u3057\u305f\u30af\u30ec\u30a2\u30c1\u30f3\u8f38\u9001\u3092\u62c5\u3044\u3001\u8133\u5185\u30af\u30ec\u30a2\u30c1\u30f3\u306e\u6052\u5e38\u6027\u7dad\u6301\u306b\u4e0d\u53ef\u6b20\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u30af\u30ec\u30a2\u30c1\u30f3\u306f\u4f53\u5185\u3067<strong>\u809d\u81d3\u3068\u814e\u81d3<\/strong>\u3067\u4e3b\u306b\u5408\u6210\u3055\u308c\u3001\u30a2\u30eb\u30ae\u30cb\u30f3:glycine\u30a2\u30df\u30b8\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\uff08AGAT\uff09\u3068\u30b0\u30a2\u30cb\u30b8\u30ce\u9162\u9178\u30e1\u30c1\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\uff08GAMT\uff09\u306e2\u6bb5\u968e\u306e\u9175\u7d20\u53cd\u5fdc\u3092\u7d4c\u3066\u7523\u751f\u3055\u308c\u308b\u3002\u3057\u304b\u3057\u3001\u8133\u5185\u3067\u306f<strong>AGAT\u3068GAMT\u306e\u767a\u73fe\u304c\u7570\u306a\u308b\u7d30\u80de\u3067\u884c\u308f\u308c\u308b<\/strong>\u305f\u3081\u3001\u30b0\u30a2\u30cb\u30b8\u30ce\u9162\u9178\u3092GAMT\u767a\u73fe\u7d30\u80de\u3078\u8f38\u9001\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u3001\u305d\u306e\u305f\u3081\u306bSLC6A8\u304c\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u3002<\/p>\n\n\n\n<p>SLC6A8\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u3001<strong>\u30af\u30ec\u30a2\u30c1\u30f3\u306e\u7d30\u80de\u5185\u53d6\u308a\u8fbc\u307f\u304c\u969c\u5bb3<\/strong>\u3055\u308c\u3001\u7279\u306b\u8133\u5185\u306e\u30af\u30ec\u30a2\u30c1\u30f3\u6fc3\u5ea6\u304c\u4f4e\u4e0b\u3057\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u306e\u7570\u5e38\u3084\u795e\u7d4c\u4f1d\u9054\u306e\u969c\u5bb3\u304c\u767a\u751f\u3059\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<h3 class=\"wp-block-heading\"><strong>\u7537\u6027\u60a3\u8005\uff08\u30d8\u30df\u63a5\u5408\u4f53\uff09<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08\u8efd\u5ea6\uff5e\u91cd\u5ea6\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\uff08\u91cd\u5ea6\u306e\u8868\u51fa\u8a00\u8a9e\u969c\u5bb3\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7570\u5e38\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09\u69d8\u75c7\u72b6\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\u3001\u81ea\u5df1\u523a\u6fc0\u884c\u52d5\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\uff08\u90e8\u5206\u767a\u4f5c\u3001\u5168\u822c\u767a\u4f5c\u3001\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\u306a\u3069\uff09<\/strong><\/li>\n\n\n\n<li>\u904b\u52d5\u6a5f\u80fd\u969c\u5bb3\uff08\u6b69\u884c\u306e\u9045\u308c\u3001\u5354\u8abf\u904b\u52d5\u969c\u5bb3\uff09<\/li>\n\n\n\n<li>\u6442\u98df\u969c\u5bb3\u3001\u80c3\u8178\u75c7\u72b6<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u5973\u6027\u4fdd\u56e0\u8005\uff08\u30d8\u30c6\u30ed\u63a5\u5408\u4f53\uff09<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u5e38\uff5e\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/strong><\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u56f0\u96e3\u3001\u6ce8\u610f\u6b20\u9665\u3001\u591a\u52d5\u75c7\u72b6<\/strong><\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u4f34\u3046\u4f8b\u3082\u3042\u308b<\/strong><\/li>\n\n\n\n<li>\u8868\u73fe\u578b\u306e\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u7121\u75c7\u72b6\u4f8b\u3082\u5b58\u5728<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u6a19\u6e96\u7684\u306a\u8a3a\u65ad\u624b\u6cd5<\/strong><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u5c3f\u4e2d\u30af\u30ec\u30a2\u30c1\u30f3\/\u30af\u30ec\u30a2\u30c1\u30cb\u30f3\u6bd4\u306e\u6e2c\u5b9a<\/strong>\uff08\u7537\u6027\u3067\u306f\u4e0a\u6607\u3001\u5973\u6027\u3067\u306f\u6b63\u5e38\u5024\u306e\u3053\u3068\u3082\u591a\u3044\uff09<\/li>\n\n\n\n<li><strong>\u8133\u78c1\u6c17\u5171\u9cf4\u30b9\u30da\u30af\u30c8\u30ed\u30b9\u30b3\u30d4\u30fc\uff081H-MRS\uff09<\/strong>\uff08\u8133\u5185\u30af\u30ec\u30a2\u30c1\u30f3\u6fc3\u5ea6\u306e\u4f4e\u4e0b\u3092\u78ba\u8a8d\uff09<\/li>\n\n\n\n<li><strong>SLC6A8\u907a\u4f1d\u5b50\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09<\/li>\n<\/ol>\n\n\n\n<p>\u7279\u306b\u5973\u6027\u60a3\u8005\u3067\u306f<strong>\u5c3f\u691c\u67fb\u306e\u307f\u3067\u306f\u8a3a\u65ad\u304c\u56f0\u96e3<\/strong>\u3067\u3042\u308a\u3001MRS\u304a\u3088\u3073\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u4e0d\u53ef\u6b20\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u73fe\u5728\u306e\u6cbb\u7642\u6226\u7565<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30af\u30ec\u30a2\u30c1\u30f3\u88dc\u5145\u7642\u6cd5<\/strong>\uff08\u5358\u72ec\u307e\u305f\u306f\u30a2\u30eb\u30ae\u30cb\u30f3\u30fb\u30b0\u30ea\u30b7\u30f3\u3068\u306e\u4f75\u7528\uff09\n<ul class=\"wp-block-list\">\n<li>\u7537\u6027\u60a3\u8005\u306b\u306f\u52b9\u679c\u304c\u4e4f\u3057\u3044\u3053\u3068\u304c\u591a\u3044<\/li>\n\n\n\n<li>\u5973\u6027\u60a3\u8005\u3067\u306f\u4e00\u5b9a\u306e\u6539\u5584\u4f8b\u3042\u308a<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u306a\u3069\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><\/li>\n\n\n\n<li><strong>\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u767a\u4f5c\u7ba1\u7406<\/strong><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u4eca\u5f8c\u306e\u6cbb\u7642\u958b\u767a<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30af\u30ec\u30a2\u30c1\u30f3\u306e\u8840\u6db2\u8133\u95a2\u9580\u900f\u904e\u6027\u3092\u9ad8\u3081\u305f\u30ea\u30dd\u30d5\u30a3\u30ea\u30c3\u30af\u8a98\u5c0e\u4f53\u306e\u958b\u767a<\/strong><\/li>\n\n\n\n<li><strong>\u30d5\u30a1\u30fc\u30de\u30b3\u30b7\u30e3\u30da\u30ed\u30f3\u7642\u6cd5<\/strong>\uff08\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306b\u3088\u308b\u8aa4\u3063\u305f\u30bf\u30f3\u30d1\u30af\u8cea\u30d5\u30a9\u30fc\u30eb\u30c7\u30a3\u30f3\u30b0\u3092\u4fee\u6b63\uff09<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b50\u5c0e\u5165\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p><strong>\u7537\u6027\u60a3\u8005<\/strong>\u306f\u4e00\u822c\u7684\u306b\u91cd\u7be4\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u5448\u3057\u3001\u8a00\u8a9e\u767a\u9054\u3084\u5b66\u7fd2\u80fd\u529b\u306e\u6539\u5584\u304c\u9650\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3002 <strong>\u5973\u6027\u4fdd\u56e0\u8005<\/strong>\u306f\u81e8\u5e8a\u7684\u591a\u69d8\u6027\u304c\u3042\u308a\u3001\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u306e\u307f\u3092\u793a\u3059\u4f8b\u304b\u3089\u3001\u7537\u6027\u3068\u540c\u69d8\u306e\u91cd\u7be4\u306a\u75c7\u72b6\u3092\u5448\u3059\u308b\u4f8b\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3042\u308b\u3002 <strong>\u30af\u30ec\u30a2\u30c1\u30f3\u88dc\u5145\u7642\u6cd5\u306e\u52b9\u679c<\/strong>\u306f\u9650\u5b9a\u7684\u3067\u3042\u308a\u3001\u7279\u306b\u7537\u6027\u60a3\u8005\u3067\u306fMRS\u306b\u3088\u308b\u8133\u30af\u30ec\u30a2\u30c1\u30f3\u6fc3\u5ea6\u306e\u56de\u5fa9\u304c\u307b\u3068\u3093\u3069\u898b\u3089\u308c\u306a\u3044\u3002 \u65e9\u671f\u8a3a\u65ad\u30fb\u4ecb\u5165\u306b\u3088\u308a\u3001\u884c\u52d5\u7570\u5e38\u3084\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406\u304c\u53ef\u80fd\u306b\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u8fc5\u901f\u306a\u8a3a\u65ad\u304c\u91cd\u8981\u3067\u3042\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\/10.1016\/j.ymgme.2023.107694\">Mejdahl Nielsen, M., Petersen, E. T., Fenger, C. D., \u00d8rngreen, M. C., Siebner, H. R., Boer, V. O., Pova\u017ean, M., Lund, A., Gr\u00f8nborg, S. W., &amp; Hammer, T. B. (2023). X-linked creatine transporter (Slc6a8) deficiency in females: Difficult to recognize, but a potentially treatable disease. <em>Molecular Genetics and Metabolism<\/em>, <em>140<\/em>(3), 107694. https:\/\/doi.org\/10.1016\/j.ymgme.2023.107694<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ymgme.2024.108595\">Longo, N., Voss, L. A., Frigeni, M., Balakrishnan, B., &amp; Pasquali, M. (2024). Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8. <em>Molecular Genetics and Metabolism<\/em>, <em>143<\/em>(3), 108595. https:\/\/doi.org\/10.1016\/j.ymgme.2024.108595<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/brainsci13101382\">Li, J., &amp; Xu, S. (2023). Diagnosis and treatment of x-linked creatine transporter deficiency: Case report and literature review. <em>Brain Sciences<\/em>, <em>13<\/em>(10), 1382. https:\/\/doi.org\/10.3390\/brainsci13101382<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.cca.2022.05.006\">Shen, M., Yang, G., Chen, Z., Yang, K., Dong, H., Yin, C., Cheng, Y., Zhang, C., Gu, F., Yang, Y., &amp; Tian, Y. (2022). Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome. <em>Clinica Chimica Acta<\/em>, <em>532<\/em>, 29\u201336. https:\/\/doi.org\/10.1016\/j.cca.2022.05.006<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41419-025-07381-x\">Pertici, I., D\u2019Angelo, D., Vecellio Reane, D. <em>et al.<\/em> Creatine transporter (SLC6A8) knockout mice exhibit reduced muscle performance, disrupted mitochondrial Ca<sup>2+<\/sup> homeostasis, and severe muscle atrophy. <em>Cell Death Dis<\/em> <strong>16<\/strong>, 99 (2025). https:\/\/doi.org\/10.1038\/s41419-025-07381-x<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1177\/23247096231154438\">Tise, C. G., Palma, M. J., Cusmano-Ozog, K. P., &amp; Matalon, D. R. (2023). Creatine transporter deficiency presenting as failure to thrive: A case report of a novel <em>slc6a8<\/em> variant causing a treatable but likely underdiagnosed genetic disorder. <em>Journal of Investigative Medicine High Impact Case Reports<\/em>, <em>11<\/em>, 23247096231154438. https:\/\/doi.org\/10.1177\/23247096231154438<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/ncn3.12726\">Turan, B., G\u00f6kta\u015f, E., S\u00f6nmez, F. M., Aydin, H. I., Aydogdu, D., Zamani, A. G., &amp; Yildirim, M. S. (2023). Cerebral creatine deficiency syndrome with a novel missense variant in <em>SLC6A8<\/em> gene. <em>Neurology and Clinical Neuroscience<\/em>, <em>11<\/em>(5), 286\u2013288. https:\/\/doi.org\/10.1111\/ncn3.12726<\/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>\u30af\u30ec\u30a2\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\u6b20\u640d\u75c7, CTD, SLC6A8, X\u9023\u9396\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>, \u30af\u30ec\u30a2\u30c1\u30f3\u4ee3\u8b1d\u7570\u5e38, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>, \u8a00\u8a9e\u9045\u5ef6, \u3066\u3093\u304b\u3093, \u884c\u52d5\u7570\u5e38, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>, \u30af\u30ec\u30a2\u30c1\u30f3\u88dc\u5145\u7642\u6cd5, MRS, \u907a\u4f1d\u5b50\u691c\u67fb<\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60125","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\/60125","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\/60125\/revisions"}],"predecessor-version":[{"id":128062,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60125\/revisions\/128062"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60125"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}